SLC46A1 gene: MedlinePlus Genetics

Normal Function

The SLC46A1 gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT). This protein is found within the membrane of cells, where it helps transport certain B vitamins called folates into the cell. PCFT is primarily found in cells that line the walls of the small intestine. These cells have fingerlike projections called microvilli that absorb nutrients from food as it passes through the intestine. Based on their appearance, groups of these microvilli are known collectively as the brush border. PCFT is involved in transporting folates from food across the brush border membrane so they can be used by the body. PCFT is also found in the brain, where it is involved in the transport of folates between the brain and the surrounding fluid (cerebrospinal fluid).

Health Conditions Related to Genetic Changes

Hereditary folate malabsorption

Variants (also called mutations) in the SLC46A1 gene have been identified in people with hereditary folate malabsorption. This disorder interferes with the body's ability to take in (absorb) folates from food. The SLC46A1 gene variants can change single protein building blocks (amino acids) in the PCFT protein, or they can cause the cell to produce a PCFT protein that is shorter than normal. The altered PCFT protein has little or no activity. In some cases, the altered protein is missing from the cell membranes where it is needed to perform its function. Without functional PCFT, cells in the small intestine cannot absorb folates from food and cells in the brain cannot transport folate to the cerebrospinal fluid. These folate deficiencies result in the digestive issues, neurological problems, and other signs and symptoms of hereditary folate malabsorption.

More About This Health Condition

Other Names for This Gene

HCP1
heme carrier protein 1
PCFT
proton-coupled folate transporter
solute carrier family 46 (folate transporter), member 1
solute carrier family 46, member 1

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Tests of SLC46A1

Scientific Articles on PubMed

PubMed

Catalog of Genes and Diseases from OMIM

SOLUTE CARRIER FAMILY 46 (FOLATE TRANSPORTER), MEMBER 1; SLC46A1

Gene and Variant Databases

References

<!DOCTYPE html> <html lang="en" > <head > <meta charset="UTF-8"> <meta http-equiv="X-UA-Compatible" content="IE=edge">  <meta name="HandheldFriendly" content="True"> <meta name="MobileOptimized" content="320"> <meta name="viewport" content="width=device-width, initial-scale=1.0">  <link href="/static/django_uswds/uswds/css/uswds.css" rel="stylesheet" /> <link rel="stylesheet" href="/static/nwds/css/nwds.css" /> <link rel="stylesheet" href="/static/nwds/css/header.css" /> <link rel="stylesheet" href="/static/nwds/css/footer.css" /> <link rel="stylesheet" href="/static/nwds/css/form.css" /> <link rel="stylesheet" href="https://maxcdn.bootstrapcdn.com/font-awesome/4.7.0/css/font-awesome.min.css"/> <style> h1, h2, h3 { margin-bottom: 0; } .usa-font-lead { margin-top:0; } .side-content-box { border: 1px solid #d6d7d9; border-radius: 4px; background-color: #f7f7f7; padding: 2rem; } .side-content-box h3 { margin-top: 0; } .side-content-box a { font-weight: 500; text-decoration: none; } #beta { position: relative; top: -1em; } .search-warning-message { display: table; line-height: 2rem; padding: 0.2rem 1rem; font-size: 1.4rem; background-color: #fff1d2; margin-bottom: 1rem; } </style> <title>awesome-rss - NCBI</title>  <link rel="shortcut icon" type="image/ico" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.ico" /> <link rel="icon" type="image/png" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon.png" />  <link rel="icon" type="image/png" sizes="192x192" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-192.png" />  <link rel="apple-touch-icon-precomposed" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-57.png">  <link rel="apple-touch-icon-precomposed" sizes="72x72" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-72.png">  <link rel="apple-touch-icon-precomposed" sizes="114x114" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-114.png">  <link rel="apple-touch-icon-precomposed" sizes="144x144" href="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/favicons/favicon-144.png"> <meta name="robots" content="index, follow"/>  <meta name="ncbi_app" content="pubmed-rss" /> <meta name="ncbi_db" content="pubmed" /> <meta name="ncbi_pdid" content="base" /> <meta name="ncbi_phid" content="1D3334972C92C1E5000037D86BF704FE.1.1.5.1.1.1.m_1" /> <meta name="ncbi_page" content="home"/> <meta name="ncbi_op" content="page_view"/> <meta name="description" content="Django project awesome-rss"/> </head> <body > <a class="usa-skipnav" href="#main_content">Skip to main page content</a>  <section class="usa-banner"> <div class="usa-accordion"> <header class="usa-banner-header"> <div class="usa-grid usa-banner-inner"> <img src="https://cdn.ncbi.nlm.nih.gov/coreutils/uswds/img/favicons/favicon-57.png" alt="U.S. flag" /> <p>An official website of the United States government</p> <button class="usa-accordion-button usa-banner-button" aria-expanded="false" aria-controls="gov-banner-top" > <span class="usa-banner-button-text">Here's how you know</span> </button> </div> </header> <div class="usa-banner-content usa-grid usa-accordion-content" id="gov-banner-top" > <div class="usa-banner-guidance-gov usa-width-one-half"> <img class="usa-banner-icon usa-media_block-img" src="https://cdn.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-dot-gov.svg" alt="Dot gov" /> <div class="usa-media_block-body"> <p> <strong>The .gov means it’s official.</strong> <br /> Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site. </p> </div> </div> <div class="usa-banner-guidance-ssl usa-width-one-half"> <img class="usa-banner-icon usa-media_block-img" src="https://cdn.ncbi.nlm.nih.gov/coreutils/uswds/img/icon-https.svg" alt="Https" /> <div class="usa-media_block-body"> <p> <strong>The site is secure.</strong> <br /> The <strong>https://</strong> ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely. </p> </div> </div> </div> </div> </section> <div class="usa-overlay"></div> <header class="ncbi-header" role="banner" data-section="Header"> <div class="usa-grid"> <div class="usa-width-one-whole"> <div class="ncbi-header__logo"> <a href="https://www.ncbi.nlm.nih.gov/" class="logo" aria-label="NCBI Logo" data-ga-action="click_image" data-ga-label="NIH NLM Logo"> <img src="https://cdn.ncbi.nlm.nih.gov/coreutils/nwds/img/logos/AgencyLogo.svg" alt="NIH NLM Logo" /> </a> </div> <div class="ncbi-header__account"> <a id="account_login" href="https://account.ncbi.nlm.nih.gov" class="usa-button header-button" style="display:none" data-ga-action="open_menu" data-ga-label="account_menu">Log in</a> <button id="account_info" class="header-button" style="display:none" aria-controls="account_popup"> <span class="fa fa-user" aria-hidden="true"></span> <span class="username desktop-only" aria-hidden="true" id="uname_short"></span> <span class="sr-only">Show account info</span> </button> </div> <div class="ncbi-popup-anchor"> <div class="ncbi-popup account-popup" id="account_popup" aria-hidden="true"> <div class="ncbi-popup-head"> <button class="ncbi-close-button" data-ga-action="close_menu" data-ga-label="account_menu"><span class="fa fa-times"></span><span class="usa-sr-only">Close</span></button> <h4>Account</h4> </div> <div class="account-user-info"> Logged in as:<br/> <b><span class="username" id="uname_long">username</span></b> </div> <div class="account-links"> <ul class="usa-unstyled-list"> <li><a id="account_myncbi" href="/myncbi/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_myncbi">Dashboard</a></li> <li><a id="account_pubs" href="/myncbi/collections/bibliography/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_pubs">Publications</a></li> <li><a id="account_settings" href="/account/settings/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_settings">Account settings</a></li> <li><a id="account_logout" href="/account/signout/" class="set-base-url" data-ga-action="click_menu_item" data-ga-label="account_logout">Log out</a></li> </ul> </div> </div> </div> </div> </div> </header> <div role="navigation" aria-label="access keys"> <a id="nws_header_accesskey_0" href="https://www.ncbi.nlm.nih.gov/guide/browsers/#ncbi_accesskeys" class="usa-sr-only" accesskey="0" tabindex="-1">Access keys</a> <a id="nws_header_accesskey_1" href="https://www.ncbi.nlm.nih.gov" class="usa-sr-only" accesskey="1" tabindex="-1">NCBI Homepage</a> <a id="nws_header_accesskey_2" href="/myncbi/" class="set-base-url usa-sr-only" accesskey="2" tabindex="-1">MyNCBI Homepage</a> <a id="nws_header_accesskey_3" href="#maincontent" class="usa-sr-only" accesskey="3" tabindex="-1">Main Content</a> <a id="nws_header_accesskey_4" href="#" class="usa-sr-only" accesskey="4" tabindex="-1">Main Navigation</a> </div> <section data-section="Alerts"> <div class="ncbi-alerts-placeholder"></div> </section>  <main id="main_content" accesskey="3"> <section class="usa-section"> <div class="usa-grid"> <p>There is nothing to see here</p> <p class="ncbi-text-small-light">SCRIPT_NAME = None</p> </div> </section> </main>  <footer> <section class="icon-section"> <div id="icon-section-header" class="icon-section_header">Follow NCBI</div> <div class="grid-container container"> <div class="icon-section_container"> <a class="footer-icon" id="footer_twitter" href="https://twitter.com/ncbi" aria-label="Twitter"> <svg width="40" height="40" viewBox="0 0 40 37" fill="none" xmlns="http://www.w3.org/2000/svg"> <title>Twitter</title> <g id="twitterx1008"> <path id="path1008" d="M6.06736 7L16.8778 20.8991L6.00001 32.2H10.2L18.6 23.1L25.668 32.2H34L22.8 17.5L31.9 7H28.4L20.7 15.4L14.401 7H6.06898H6.06736ZM9.66753 8.73423H12.9327L29.7327 30.4658H26.5697L9.66753 8.73423Z" fill="#5B616B"/> </g> </svg> </a> <a class="footer-icon" id="footer_facebook" href="https://www.facebook.com/ncbi.nlm" aria-label="Facebook"><svg data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300"> <title>Facebook</title> <path class="cls-11" d="M210.5,115.12H171.74V97.82c0-8.14,5.39-10,9.19-10h27.14V52l-39.32-.12c-35.66,0-42.42,26.68-42.42,43.77v19.48H99.09v36.32h27.24v109h45.41v-109h35Z"> </path> </svg></a> <a class="footer-icon" id="footer_linkedin" href="https://www.linkedin.com/company/ncbinlm" aria-label="LinkedIn"><svg data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300"> <title>LinkedIn</title> <path class="cls-11" d="M101.64,243.37H57.79v-114h43.85Zm-22-131.54h-.26c-13.25,0-21.82-10.36-21.82-21.76,0-11.65,8.84-21.15,22.33-21.15S101.7,78.72,102,90.38C102,101.77,93.4,111.83,79.63,111.83Zm100.93,52.61A17.54,17.54,0,0,0,163,182v61.39H119.18s.51-105.23,0-114H163v13a54.33,54.33,0,0,1,34.54-12.66c26,0,44.39,18.8,44.39,55.29v58.35H198.1V182A17.54,17.54,0,0,0,180.56,164.44Z"> </path> </svg></a> <a class="footer-icon" id="footer_github" href="https://github.com/ncbi" aria-label="GitHub"><svg data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 300 300"> <defs> <style> .cls-11, .cls-12 { fill: #737373; } .cls-11 { fill-rule: evenodd; } </style> </defs> <title>GitHub</title> <path class="cls-11" d="M151.36,47.28a105.76,105.76,0,0,0-33.43,206.1c5.28,1,7.22-2.3,7.22-5.09,0-2.52-.09-10.85-.14-19.69-29.42,6.4-35.63-12.48-35.63-12.48-4.81-12.22-11.74-15.47-11.74-15.47-9.59-6.56.73-6.43.73-6.43,10.61.75,16.21,10.9,16.21,10.9,9.43,16.17,24.73,11.49,30.77,8.79,1-6.83,3.69-11.5,6.71-14.14C108.57,197.1,83.88,188,83.88,147.51a40.92,40.92,0,0,1,10.9-28.39c-1.1-2.66-4.72-13.42,1-28,0,0,8.88-2.84,29.09,10.84a100.26,100.26,0,0,1,53,0C198,88.3,206.9,91.14,206.9,91.14c5.76,14.56,2.14,25.32,1,28a40.87,40.87,0,0,1,10.89,28.39c0,40.62-24.74,49.56-48.29,52.18,3.79,3.28,7.17,9.71,7.17,19.58,0,14.15-.12,25.54-.12,29,0,2.82,1.9,6.11,7.26,5.07A105.76,105.76,0,0,0,151.36,47.28Z"> </path> <path class="cls-12" d="M85.66,199.12c-.23.52-1.06.68-1.81.32s-1.2-1.06-.95-1.59,1.06-.69,1.82-.33,1.21,1.07.94,1.6Zm-1.3-1"> </path> <path class="cls-12" d="M90,203.89c-.51.47-1.49.25-2.16-.49a1.61,1.61,0,0,1-.31-2.19c.52-.47,1.47-.25,2.17.49s.82,1.72.3,2.19Zm-1-1.08"> </path> <path class="cls-12" d="M94.12,210c-.65.46-1.71,0-2.37-.91s-.64-2.07,0-2.52,1.7,0,2.36.89.65,2.08,0,2.54Zm0,0"></path> <path class="cls-12" d="M99.83,215.87c-.58.64-1.82.47-2.72-.41s-1.18-2.06-.6-2.7,1.83-.46,2.74.41,1.2,2.07.58,2.7Zm0,0"> </path> <path class="cls-12" d="M107.71,219.29c-.26.82-1.45,1.2-2.64.85s-2-1.34-1.74-2.17,1.44-1.23,2.65-.85,2,1.32,1.73,2.17Zm0,0"> </path> <path class="cls-12" d="M116.36,219.92c0,.87-1,1.59-2.24,1.61s-2.29-.68-2.3-1.54,1-1.59,2.26-1.61,2.28.67,2.28,1.54Zm0,0"> </path> <path class="cls-12" d="M124.42,218.55c.15.85-.73,1.72-2,1.95s-2.37-.3-2.52-1.14.73-1.75,2-2,2.37.29,2.53,1.16Zm0,0"></path> </svg></a> <a class="footer-icon" id="footer_blog" href="https://ncbiinsights.ncbi.nlm.nih.gov/" aria-label="Blog"> <svg id="Layer_1" data-name="Layer 1" xmlns="http://www.w3.org/2000/svg" viewBox="0 0 40 40"><defs><style>.cls-1{fill:#737373;}</style></defs><path class="cls-1" d="M14,30a4,4,0,1,1-4-4,4,4,0,0,1,4,4Zm11,3A19,19,0,0,0,7.05,15a1,1,0,0,0-1,1v3a1,1,0,0,0,.93,1A14,14,0,0,1,20,33.07,1,1,0,0,0,21,34h3a1,1,0,0,0,1-1Zm9,0A28,28,0,0,0,7,6,1,1,0,0,0,6,7v3a1,1,0,0,0,1,1A23,23,0,0,1,29,33a1,1,0,0,0,1,1h3A1,1,0,0,0,34,33Z"/></svg> </a> </div> </div> </section> <section class="container-fluid bg-primary"> <div class="container pt-5"> <div class="row mt-3"> <div class="col-lg-3 col-12"> <p><a class="text-white" href="https://www.nlm.nih.gov/socialmedia/index.html">Connect with NLM</a></p> <ul class="list-inline social_media"> <li class="list-inline-item"><a href="https://twitter.com/NLM_NIH" aria-label="Twitter" target="_blank" rel="noopener noreferrer"> <svg width="35" height="35" viewBox="0 0 38 35" fill="none" xmlns="http://www.w3.org/2000/svg"> <title>Twitter</title> <g id="twitterx1009" clip-path="url(#clip0_65276_3946)"> <path id="Vector" d="M17.5006 34.6565C26.9761 34.6565 34.6575 26.9751 34.6575 17.4996C34.6575 8.02416 26.9761 0.342773 17.5006 0.342773C8.02514 0.342773 0.34375 8.02416 0.34375 17.4996C0.34375 26.9751 8.02514 34.6565 17.5006 34.6565Z" fill="#205493" stroke="white" stroke-width="1.2" stroke-miterlimit="10"></path> <path id="path1009" d="M8.54811 8.5L16.2698 18.4279L8.50001 26.5H11.5L17.5 20L22.5486 26.5H28.5L20.5 16L27 8.5H24.5L19 14.5L14.5007 8.5H8.54927H8.54811ZM11.1197 9.73873H13.4519L25.4519 25.2613H23.1926L11.1197 9.73873Z" fill="white"></path> </g> <defs> <clipPath id="clip0_65276_3946"> <rect width="38" height="38" fill="white"></rect> </clipPath> </defs> </svg></a> </li> <li class="list-inline-item"><a href="https://www.facebook.com/nationallibraryofmedicine" aria-label="Facebook" rel="noopener noreferrer" target="_blank"> <svg version="1.1" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink" x="0px" y="0px" viewBox="0 0 249 249" style="enable-background:new 0 0 249 249;" xml:space="preserve"> <style type="text/css"> .st10 { fill: #FFFFFF; } .st110 { fill: none; stroke: #FFFFFF; stroke-width: 8; stroke-miterlimit: 10; } </style> <title>SM-Facebook</title> <g> <g> <path class="st10" d="M159,99.1h-24V88.4c0-5,3.3-6.2,5.7-6.2h16.8V60l-24.4-0.1c-22.1,0-26.2,16.5-26.2,27.1v12.1H90v22.5h16.9 v67.5H135v-67.5h21.7L159,99.1z"></path> </g> </g> <circle class="st110" cx="123.6" cy="123.2" r="108.2"></circle> </svg> </a></li> <li class="list-inline-item"><a href="https://www.youtube.com/user/NLMNIH" aria-label="Youtube" target="_blank" rel="noopener noreferrer"><svg version="1.1" xmlns="http://www.w3.org/2000/svg" xmlns:xlink="http://www.w3.org/1999/xlink" x="0px" y="0px" viewBox="0 0 249 249" style="enable-background:new 0 0 249 249;" xml:space="preserve"> <title>SM-Youtube</title> <style type="text/css"> .st4 { fill: none; stroke: #FFFFFF; stroke-width: 8; stroke-miterlimit: 10; } .st5 { fill: #FFFFFF; } </style> <circle class="st4" cx="124.2" cy="123.4" r="108.2"></circle> <g transform="translate(0,-952.36218)"> <path class="st5" d="M88.4,1037.4c-10.4,0-18.7,8.3-18.7,18.7v40.1c0,10.4,8.3,18.7,18.7,18.7h72.1c10.4,0,18.7-8.3,18.7-18.7 v-40.1c0-10.4-8.3-18.7-18.7-18.7H88.4z M115.2,1058.8l29.4,17.4l-29.4,17.4V1058.8z"></path> </g> </svg></a></li> </ul> </div> <div class="col-lg-3 col-12"> <p class="address_footer text-white">National Library of Medicine<br> <a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br> Bethesda, MD 20894</a></p> </div> <div class="col-lg-3 col-12 centered-lg"> <p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br> <a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br> <a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" class="text-white" id="vdp">HHS Vulnerability Disclosure</a></p> </div> <div class="col-lg-3 col-12 centered-lg"> <p><a class="supportLink text-white" href="https://support.nlm.nih.gov/">Help</a><br> <a href="https://www.nlm.nih.gov/accessibility.html" class="text-white">Accessibility</a><br> <a href="https://www.nlm.nih.gov/careers/careers.html" class="text-white">Careers</a></p> </div> </div> <div class="row"> <div class="col-lg-12 centered-lg"> <nav class="bottom-links"> <ul class="mt-3"> <li> <a class="text-white" href="//www.nlm.nih.gov/">NLM</a> </li> <li> <a class="text-white" href="https://www.nih.gov/">NIH</a> </li> <li> <a class="text-white" href="https://www.hhs.gov/">HHS</a> </li> <li> <a class="text-white" href="https://www.usa.gov/">USA.gov</a> </li> </ul> </nav> </div> </div> </div> </section> </footer>   <script type="text/javascript"> var nwds_version = "1.2.6"; var meta_nwds_ver = document.createElement('meta'); meta_nwds_ver.name = 'ncbi_nwds_ver'; meta_nwds_ver.content = nwds_version; document.getElementsByTagName('head')[0].appendChild(meta_nwds_ver); var meta_nwds = document.createElement('meta'); meta_nwds.name = 'ncbi_nwds'; meta_nwds.content = 'yes'; document.getElementsByTagName('head')[0].appendChild(meta_nwds); var alertsUrl = "/core/alerts/alerts.js"; if (typeof ncbiBaseUrl !== 'undefined') { alertsUrl = ncbiBaseUrl + alertsUrl; } </script>  <script src="/static/django_uswds/uswds/js/uswds.js"></script> <script src="https://code.jquery.com/jquery-3.5.0.min.js" integrity="sha256-xNzN2a4ltkB44Mc/Jz3pT4iU1cmeR0FkXs4pru/JxaQ=" crossorigin="anonymous"> </script> <script> var fallbackJquery = "/static/base/js/jquery-3.5.0.min.js"; window.jQuery || document.write("<script src=" + fallbackJquery + ">\x3C/script>") </script> <script src="/static/nwds/js/nwds.js" type="text/javascript"> </script> <script src="/static/nwds/js/header.js" type="text/javascript"> </script> <script src="/static/nwds/js/ncbipopup.js" type="text/javascript"> </script> <script src="/static/nwds/js/ncbiclearbutton.js" type="text/javascript"> </script> <script src="/static/nwds/js/override-uswds.js" type="text/javascript"> </script> <script src="/static/nwds/js/ncbifeedback.js" type="text/javascript"> </script> <script type="text/javascript"> var ncbiBaseUrl = "//www.ncbi.nlm.nih.gov/"; </script> <script type="text/javascript" src="https://www.ncbi.nlm.nih.gov/core/pinger/pinger.js"> </script> </body> </html> Citation on PubMed
Goldman ID. Hereditary Folate Malabsorption. 2008 Jun 17 [updated 2026 Mar 25]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1673/ Citation on PubMed
Nakai Y, Inoue K, Abe N, Hatakeyama M, Ohta KY, Otagiri M, Hayashi Y, Yuasa H. Functional characterization of human proton-coupled folate transporter/heme carrier protein 1 heterologously expressed in mammalian cells as a folate transporter. J Pharmacol Exp Ther. 2007 Aug;322(2):469-76. doi: 10.1124/jpet.107.122606. Epub 2007 May 2. Citation on PubMed
Qiu A, Jansen M, Sakaris A, Min SH, Chattopadhyay S, Tsai E, Sandoval C, Zhao R, Akabas MH, Goldman ID. Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption. Cell. 2006 Dec 1;127(5):917-28. doi: 10.1016/j.cell.2006.09.041. Citation on PubMed
Wolf G. Identification of proton-coupled high-affinity human intestinal folate transporter mutated in human hereditary familial folate malabsorption. Nutr Rev. 2007 Dec;65(12 Pt 1):554-7. doi: 10.1301/nr.2007.dec.554-557. Citation on PubMed
Zhao R, Aluri S, Goldman ID. The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption. Mol Aspects Med. 2017 Feb;53:57-72. doi: 10.1016/j.mam.2016.09.002. Epub 2016 Sep 21. Citation on PubMed
Zhao R, Matherly LH, Goldman ID. Membrane transporters and folate homeostasis: intestinal absorption and transport into systemic compartments and tissues. Expert Rev Mol Med. 2009 Jan 28;11:e4. doi: 10.1017/S1462399409000969. Citation on PubMed or Free article on PubMed Central
Zhao R, Min SH, Qiu A, Sakaris A, Goldberg GL, Sandoval C, Malatack JJ, Rosenblatt DS, Goldman ID. The spectrum of mutations in the PCFT gene, coding for an intestinal folate transporter, that are the basis for hereditary folate malabsorption. Blood. 2007 Aug 15;110(4):1147-52. doi: 10.1182/blood-2007-02-077099. Epub 2007 Apr 19. Citation on PubMed or Free article on PubMed Central
Zhao R, Qiu A, Tsai E, Jansen M, Akabas MH, Goldman ID. The proton-coupled folate transporter: impact on pemetrexed transport and on antifolates activities compared with the reduced folate carrier. Mol Pharmacol. 2008 Sep;74(3):854-62. doi: 10.1124/mol.108.045443. Epub 2008 Jun 4. Citation on PubMed or Free article on PubMed Central