Gene Symbol | SLC12A6 |
Entrez Gene ID | 9990 |
Full Name | solute carrier family 12 member 6 |
Synonyms | ACCPN,KCC3,KCC3A,KCC3B |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3) |