SLC26A3 does not exchange Cl- for HCO3-

Stable Identifier
R-HSA-5627737
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol, extracellular region, plasma membrane
ReviewStatus
5/5
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SLC26A3 does not exchange Cl- for HCO3-
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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*, I675dup and V317del (Hoglund et al. 1996, 1998, Makela et al. 2002).
Literature References
PubMed ID Title Journal Year
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
12442266 SLC26A3 mutations in congenital chloride diarrhea

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

Hum. Mutat. 2002
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
Input
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as an event of
Catalyst Activity

solute:inorganic anion antiporter activity of SLC26A3 mutants [plasma membrane]

Physical Entity
SLC26A3 mutants [plasma membrane] (Homo sapiens)
Activity
solute:inorganic anion antiporter activity (GO:0005452)
Normal reaction
SLC26A3,6 exchange Cl- for HCO3- (Homo sapiens)
Functional status

Loss of function of SLC26A3 mutants [plasma membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
secretory diarrhea DOID:0050129
Cross References
Mondo
Authored
Jassal, B  (2014-10-20)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-10-20)
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