SLC12A6

SLC12A6
Identifiers
AliasesSLC12A6, ACCPN, KCC3, KCC3A, KCC3B, solute carrier family 12 member 6
External IDsOMIM: 604878; MGI: 2135960; HomoloGene: 21069; GeneCards: SLC12A6; OMA:SLC12A6 - orthologs
Orthologs
SpeciesHumanMouse
Entrez

9990

107723

Ensembl

ENSG00000140199

ENSMUSG00000027130

UniProt

Q9UHW9

Q924N4

RefSeq (mRNA)

NM_133648
NM_133649
NM_001362700

RefSeq (protein)

NP_598409
NP_598410
NP_001349629

Location (UCSC)Chr 15: 34.23 – 34.34 MbChr 2: 112.1 – 112.19 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Solute carrier family 12 member 6 is a protein that in humans is encoded by the SLC12A6 gene.

This gene is a member of the K-Cl cotransporter (KCC) family. K-Cl cotransporters are integral membrane proteins that lower intracellular chloride concentrations below the electrochemical equilibrium potential. The proteins encoded by this gene are activated by cell swelling induced by hypotonic conditions. Alternate splicing results in multiple transcript variants encoding different isoforms, the most important ones being KCC3a and KCC3b. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy.