SLC26A3 does not exchange Cl- for HCO3-

Stable Identifier
R-HSA-5627737
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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. 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. Mutations in SLC26A3 causing DIAR1 include W462*, G187*, I676ins and V317del (Hoglund et al. 1996, 1998, Makela et al. 2002).

Literature References
PubMed ID Title Journal Year
12442266 SLC26A3 mutations in congenital chloride diarrhea

Mäkelä, S, Kere, J, Holmberg, C, Höglund, P

Hum. Mutat. 2002
9718329 Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait

Höglund, P, Auranen, M, Socha, J, Popinska, K, Nazer, H, Rajaram, U, Al Sanie, A, Al-Ghanim, M, Holmberg, C, de la Chapelle, A, Kere, J

Am. J. Hum. Genet. 1998
8896562 Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea

Höglund, P, Haila, S, Socha, J, Tomaszewski, L, Saarialho-Kere, U, Karjalainen-Lindsberg, ML, Airola, K, Holmberg, C, de la Chapelle, A, Kere, J

Nat Genet 1996
Participants
Participates
Catalyst Activity

inorganic anion exchanger activity of SLC26A3 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC26A3 mutants [plasma membrane]

Status
Disease
Name Identifier Synonyms
secretory diarrhea DOID:0050129
Authored
Reviewed
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