SLC12A6, Official Symbol SLC12A6provided by HGNC Official Full Name solute carrier family 12 member 6provided by HGNC Primary source HGNC:HGNC:10914 See related Ensembl:ENSG00000140199 MIM:604878; AllianceGenome:HGNC:10914 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as KCC3; ACCPN; KCC3A; KCC3B; CMT2II 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, Jul 2008] Expression Broad expression in testis (RPKM 15.1), bone marrow (RPKM 10.0) and 24 other tissues See more Orthologs mouse all