CLCN7

Protein-coding gene in humans From Wikipedia, the free encyclopedia

Chloride channel 7 alpha subunit also known as H+/Cl exchange transporter 7 is a protein that in humans is encoded by the CLCN7 gene.[5] In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor.[6][7]

AliasesCLCN7, CLC-7, CLC7, OPTA2, OPTB4, PPP1R63, chloride voltage-gated channel 7, HOD
End1,475,084 bp[1]
Quick facts Identifiers, Aliases ...
CLCN7
Identifiers
AliasesCLCN7, CLC-7, CLC7, OPTA2, OPTB4, PPP1R63, chloride voltage-gated channel 7, HOD
External IDsOMIM: 602727; MGI: 1347048; HomoloGene: 56546; GeneCards: CLCN7; OMA:CLCN7 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001114331
NM_001287

NM_011930
NM_001317404

RefSeq (protein)

NP_001107803
NP_001278

NP_001304333
NP_036060

Location (UCSC)Chr 16: 1.44 – 1.48 MbChr 17: 25.35 – 25.38 Mb
PubMed search[3][4]
Wikidata
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Clinical significance

Mutations in the CLCN7 gene have been reported to be associated with autosomal dominant osteopetrosis type II, a rare disease of bones.[8]

See also

References

Further reading

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