Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)

Stable Identifier
R-HSA-5619085
Type
Pathway
Species
Homo sapiens
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Solute carrier (SLC) genes that code chloride (Cl-)/bicarbonate (HCO3-) exchanger proteins are the SLC4 and SLC26 families. The chloride anion exchanger SLC26A3 (aka down-regulated in adenoma, DRA) mediates electrolyte and fluid absorption in the colon. It is also localised to the midpiece tail membrane of sperm where it plays a role in Cl-/HCO3- homeostasis during sperm epididymal maturation. Defects in SLC26A3 cause congenital chloride diarrhea 1 (DIAR1), a disease characterised by watery stools containing an excess of chloride resulting in dehydration, hypokalemia, and metabolic alkalosis (Alper & Sharma 2013, Wedenoja et al. 2011).

Literature References
PubMed ID Title Journal Year
21394828 Update on SLC26A3 mutations in congenital chloride diarrhea

Wedenoja, S, Pekansaari, E, Höglund, P, Mäkelä, S, Holmberg, C, Kere, J

Hum. Mutat. 2011
23506885 The SLC26 gene family of anion transporters and channels

Alper, SL, Sharma, AK

Mol. Aspects Med. 2013
Participants
Participant Of
Disease
Name Identifier Synonyms
secretory diarrhea 0050129
Cross References
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