SLC12A6

Solute carrier family 12 member 6 is a protein that in humans is encoded by the SLC12A6 gene.[5][6][7]

SLC12A6
Identifiers
AliasesSLC12A6, ACCPN, KCC3, KCC3A, KCC3B, solute carrier family 12 member 6
External IDsOMIM: 604878 MGI: 2135960 HomoloGene: 21069 GeneCards: SLC12A6
Gene location (Human)
Chr.Chromosome 15 (human)[1]
Band15q14Start34,229,784 bp[1]
End34,338,060 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

9990

107723

Ensembl

ENSG00000140199

ENSMUSG00000027130

UniProt

Q9UHW9

Q924N4

RefSeq (mRNA)

NM_133648
NM_133649
NM_001362700

RefSeq (protein)

NP_598409
NP_598410
NP_001349629

Location (UCSC)Chr 15: 34.23 – 34.34 MbChr 2: 112.27 – 112.36 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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, the most important ones being KCC3a and KCC3b. Mutations in this gene are associated with agenesis of the corpus callosum with peripheral neuropathy.[7]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000140199 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000027130 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Hiki K, D'Andrea RJ, Furze J, Crawford J, Woollatt E, Sutherland GR, Vadas MA, Gamble JR (May 1999). "Cloning, characterization, and chromosomal location of a novel human K+-Cl cotransporter". J Biol Chem. 274 (15): 10661–7. doi:10.1074/jbc.274.15.10661. PMID 10187864.
  6. Mount DB, Mercado A, Song L, Xu J, George AL Jr, Delpire E, Gamba G (Jul 1999). "Cloning and characterization of KCC3 and KCC4, new members of the cation-chloride cotransporter gene family". J Biol Chem. 274 (23): 16355–62. doi:10.1074/jbc.274.23.16355. PMID 10347194.
  7. "Entrez Gene: SLC12A6 solute carrier family 12 (potassium/chloride transporters), member 6".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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