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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

SLC26A3

The information on this page was automatically extracted from online scientific databases.

What is the official name of the SLC26A3 gene?

The official name of this gene is “solute carrier family 26 (anion exchanger), member 3.”

SLC26A3 is the gene's official symbol. The SLC26A3 gene is also known by other names, listed below.

What is the normal function of the SLC26A3 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1811):

The protein encoded by this gene is a transmembrane glycoprotein that transports chloride ions across the cell membrane in exchange for bicarbonate ions. It is localized to the mucosa of the lower intestinal tract, particularly to the apical membrane of columnar epithelium and some goblet cells. The protein is essential for intestinal chloride absorption, and mutations in this gene have been associated with congenital chloride diarrhea. [provided by RefSeq, Oct 2008]

From UniProt (http://www.uniprot.org/uniprot/P40879):

Chloride/bicarbonate exchanger. Mediates the efficient absorption of chloride ions in the colon, participating in fluid homeostasis. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.

How are changes in the SLC26A3 gene related to health conditions?

UniProt (http://www.uniprot.org/uniprot/P40879) provides the following information about the SLC26A3 gene's known or predicted involvement in human disease.

Diarrhea 1, secretory chloride, congenital (DIAR1): A disease characterized by voluminous watery stools containing an excess of chloride. The children with this disease are often premature. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/1811) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the SLC26A3 gene.
  • Congenital secretory diarrhea, chloride type
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the SLC26A3 gene and its association with health conditions.
OMIM
Number
Title

Where is the SLC26A3 gene located?

Cytogenetic Location: 7q31

Molecular Location on chromosome 7: base pairs 107,765,466 to 107,803,232

The SLC26A3 gene is located on the long (q) arm of chromosome 7 at position 31.

The SLC26A3 gene is located on the long (q) arm of chromosome 7 at position 31.

More precisely, the SLC26A3 gene is located from base pair 107,765,466 to base pair 107,803,232 on chromosome 7.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SLC26A3?

You and your healthcare professional may find the following resources about SLC26A3 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 SLC26A3 gene or gene products?

  • CLD
  • DRA

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SLC26A3?

bicarbonate ; cell ; cell membrane ; chloride ; colon ; congenital ; epididymal ; epithelium ; gene ; homeostasis ; ions ; mucosa ; protein ; sperm ; transmembrane

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

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: August 3, 2015