GeneID: 91



Names

Common Name: SLC12A6 Type: Gene
Chromosome: 15 (NC_000015.10) Locus: NG_007951.1 (SLC12A6)
HUGO Symbol: SLC12A6 Full Name: solute carrier family 12 member 6
Exons: 26 Introns: 25

Description:
SLC12A6 belongs to the family of electroneutral cation-Cl− coupled cotransporters. These mediate the movement of cations (Na+ or K+) coupled with Cl−, with a 1:1 stoichiometry, across membranes. The ion transport occurs without producing changes in transmembrane potential. Instead, it depends on pre-established gradients sustained by Na+-K+-ATPase. Therefore, the cotransporters function by changing the intracellular Cl− concentration below or above the electrochemical equilibrium. The encoded protein is a K+/Cl− cotransporter, composed of 12 transmembrane domains in a central hydrophobic domain, together with N- and C-termini that are likely cytoplasmic. It is expressed in most tissues and plays crucial roles in ion homeostasis, cell volume regulation, transepithelial salt transport and function of the peripheral nervous system. Alternate splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. Polymorphisms in this gene associated with pulmonary hypertension in sickle cell patients.

Synonyms: KCC3 , ACCPN , KCC3A , KCC3B

Comments:
N/A

Sequence Viewer

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Publications / Origin

  1. Hebert SC, Mount DB, Gamba G, Molecular physiology of cation-coupled Cl- cotransport: the SLC12 family., Pflugers Arch. , 447(5), 580-93, 2004 PubMed
  2. Gamba G, Molecular physiology and pathophysiology of electroneutral cation-chloride cotransporters., Physiol. Rev. , 85(2), 423-93, 2005 PubMed
  3. Ashley-Koch AE, Elliott L, Kail ME, De Castro LM, Jonassaint J, Jackson TL, Price J, Ataga KI, Levesque MC, Weinberg JB, Orringer EP, Collins A, Vance JM, Telen MJ, Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease., Blood , 111(12), 5721-6, 2008 PubMed
Created on 2016-04-26 18:17:33, Last reviewed on 2016-04-26 18:19:07 (Show full history)


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