Defective SLC12A1 causes Bartter syndrome 1 (BS1)

Stable Identifier
R-HSA-5619104
Type
Pathway
Species
Homo sapiens
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The solute carrier family 12 member 1 (SLC12A1, NKCC2) is a kidney-specific, membrane-bound protein that cotransports two Cl- ions electroneutrally into cells with a Na+ ion and a K+ ion and plays a vital role in the regulation of ionic balance and cell volume. Defects in SLC12A1 can cause Bartter’s syndrome (BS1; MIM:601678), an autosomal-recessive disease salt-wasting disorder characterised by renal tubular hypokalaemia, metabolic alkalosis and hypercalciuria. Clinical features present in infancy and include muscle weakness, anorexia, polydipsia, polyuria, failure to thrive and mental and growth retardation (Favero et al. 2011, Gagnon & Delpire 2013).

Literature References
PubMed ID Title Journal Year
22142744 Miscellaneous non-inflammatory musculoskeletal conditions. Bartter's and Gitelman's diseases

Favero, M, Calò, LA, Schiavon, F, Punzi, L

Best Pract Res Clin Rheumatol 2011
23325410 Physiology of SLC12 transporters: lessons from inherited human genetic mutations and genetically engineered mouse knockouts

Gagnon, KB, Delpire, E

Am. J. Physiol., Cell Physiol. 2013
Participants
Participant Of
Disease
Name Identifier Synonyms
Bartter disease 445 Aldosteronism with hyperplasia of the adrenal cortex, Bartter's syndrome, Bartter's syndrome, Bartter's syndrome, Bartter's syndrome
Cross References
BioModels Database
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