Solute Carrier Family 12 (Potassium/Chloride Transporter), Member 6

Alternative Names

  • SLC12A6
  • Potassium-Chloride Cotransporter 3
  • KCC3
  • Potassium-Chloride Cotransporter 3, Isoform A
  • KCC3A
  • Potassium-Chloride Cotransporter 3, Isoform B
  • KCC3B
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OMIM Number

604878

NCBI Gene ID

9990

Uniprot ID

Q9UHW9

Length

108,274 bases

No. of Exons

28

No. of isoforms

6

Protein Name

Solute carrier family 12 member 6

Molecular Mass

127617 Da

Amino Acid Count

1150

Genomic Location

chr15:34,229,783-34,338,056

Gene Map Locus
15q14

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001365088.1:c.745+2T>AUnited Arab EmiratesNC_000015.10:g.34256227A>TLikely PathogenicLikely PathogenicAgenesis of the Corpus Callosum with Peripheral NeuropathyNG_007951.1:g.86838T>A; NM_001365088.1:c.745+2T>A; NP_001352017.1:p.?1555380998551233
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