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SLC46A1

SLC46A1

Reviewed May 2009

What is the official name of the SLC46A1 gene?

The official name of this gene is “solute carrier family 46 (folate transporter), member 1.”

SLC46A1 is the gene's official symbol. The SLC46A1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SLC46A1 gene?

The SLC46A1 gene provides instructions for making a protein called the proton-coupled folate transporter (PCFT). PCFT is important for normal functioning of intestinal epithelial cells, which are cells that line the walls of the 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 the process of using energy to move certain B vitamins called folates across the brush border membrane for absorption, a mechanism called active transport. It is also involved in the transport of folates between the brain and the fluid that surrounds it (cerebrospinal fluid). Folates are important for many cell functions, including the production of DNA and its chemical cousin, RNA.

Does the SLC46A1 gene share characteristics with other genes?

The SLC46A1 gene belongs to a family of genes called SLC (solute carriers).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the SLC46A1 gene related to health conditions?

hereditary folate malabsorption - caused by mutations in the SLC46A1 gene

More than 10 mutations in the SLC46A1 gene have been identified in people with hereditary folate malabsorption. These mutations cause the substitution of one protein building block (amino acid) for another amino acid in the PCFT protein, or result in a PCFT protein that is shorter than normal. The mutated PCFT protein has little or no activity. In some cases the abnormal protein is not transported to the cell membrane, and so it is unable to perform its function. PCFT inactivity impairs the body's ability to absorb folates from food, leading to the signs and symptoms of hereditary folate malabsorption.

Where is the SLC46A1 gene located?

Cytogenetic Location: 17q11.2

Molecular Location on chromosome 17: base pairs 28,394,641 to 28,406,211

The SLC46A1 gene is located on the long (q) arm of chromosome 17 at position 11.2.

The SLC46A1 gene is located on the long (q) arm of chromosome 17 at position 11.2.

More precisely, the SLC46A1 gene is located from base pair 28,394,641 to base pair 28,406,211 on chromosome 17.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SLC46A1?

You and your healthcare professional may find the following resources about SLC46A1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SLC46A1 gene or gene products?

  • HCP1
  • heme carrier protein 1
  • MGC9564
  • PCFT
  • proton-coupled folate transporter
  • solute carrier family 46, member 1

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SLC46A1?

amino acid ; brush border ; carrier ; cell ; cell membrane ; DNA ; epithelial ; folate ; gene ; heme ; intestine ; malabsorption ; microvilli ; protein ; proton ; RNA ; solute ; substitution ; vitamins

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (16 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: May 2009
Published: April 17, 2014