Entrez gene ID | | 9990 |
Official gene symbol | | SLC12A6 |
Full name | | solute carrier family 12 (potassium/chloride transporters), member 6 |
Aliases | | ,ACCPN,DKFZp434D2135,KCC3,KCC3A,KCC3B, |
Gene summary | | 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. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq] |
Location | | Chromosome: 15 Locus: 15q13-q15 |
Gene position | | 34630265 - 34522197 Map Viewer |
Gene orientation | | minus |
Gene size | | 108069 bp |
Gene sequence |
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OMIM ID | | 604878 |