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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.
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]
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.
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.
|214700 (http://omim.org/entry/214700)||DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL|
|126650 (http://omim.org/entry/126650)||SOLUTE CARRIER FAMILY 26, MEMBER 3|
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.
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.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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.