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Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1)

Summary

Organism

Homo sapiens (human)

Reactome

R-HSA-5619085

PubChem

R-HSA-5619085

Description

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).

Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.

SPV: a JavaScript Signaling Pathway Visualizer, Bioinformatics, 2018

Displaying 1 entry
UniProt ID	Protein Name	Gene Symbol	Pathway Viewer
P40879	Chloride anion exchanger	DRA SLC26A3	view

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