SLC12A6

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]

Description

solute carrier family 12 (potassium/chloride transporters), member 6

Protein family

Membrane proteins predicted by MDM, Transporters

Chromosome

15:q14 (34525460 - 34630261)

Ensembl ID

ENSG00000140199  (ver. 69.37)

Orthologs

-

Human splice variants