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Gene : SLC12A6 Homo sapiens

Name  ? solute carrier family 12 member 6 Cytological Location  15q14
Brief Description  solute carrier family 12 member 6
description  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]
  • synonyms:
  • KCC3,
  • ACCPN,
  • HGNC:10914,
  • NM_005135,
  • AF108831,
  • SLC12A6,
  • KCC3A,
  • KCC3,
  • OTTHUMG00000129441,
  • uc001zhv.4,
  • KCC3B,
  • solute carrier family 12 (potassium/chloride transporter), member 6,
  • ACCPN,
  • agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)
  • identifiers:
  • 9990,
  • ENSG00000140199,
  • SLC12A6

Genome feature

Region: gene ? Length: 108069  
Location: 15:34229996-34338064 reverse strand Cyto location: 15q14


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Disease

1 Diseases

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2011 SN Ps

5 Cross References

19 Data Sets

15 Homologues

0 Located Features

90 Rna Seq Results