Symbol: Name: ID: |
SLC12A6 solute carrier family 12 (potassium/chloride transporters), member 6 GFS:823 |
Gene name: | SLC12A6 |
Chromosome: | 15q13 |
Previous Symbols: | KCC3, ACCPN |
Previous Names: | agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome) |
Aliases: | |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2135960 | Rat Genome Database ID: | RGD:1311335 |
HGNC ID: | HGNC:10914 | RefSeq IDs: | NM_001042494 |
Entrez Gene ID: | 9990 | Ensembl Gene ID: | ENSG00000140199 |
VEGA IDs: | OTTHUMG00000129441 | UniProt ID: | Q9UHW9 |
UCSC ID: | uc001zhw.2 | OMIM ID: | 604878 |
Pubmed: | PMID10187864 PMID 10347194 | ||
CCDS IDs: | CCDSCCDS10036.1 CCDS CCDS42010.1 CCDS CCDS42011.1 CCDS CCDS42012.1 |
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. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy. [provided by RefSeq].
Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells.
Products for SLC12A6 gene
Catalog | Product Name | Application | Company |
GFS:E00823 | solute carrier family 12 (potassium/chloride transporters), member 6; ELISA kit | ELISA | n/a |
GFS:A00823 | solute carrier family 12 (potassium/chloride transporters), member 6; Anti | ANTIBODIES | n/a |
GFS:P00823 | solute carrier family 12 (potassium/chloride transporters), member 6; Protien | Protien | n/a |