Species Human Entrez 1186 | Human Mouse Ensembl ENSG00000103249 | |
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Aliases CLCN7, CLC-7, CLC7, OPTA2, OPTB4, PPP1R63, chloride voltage-gated channel 7 External IDs MGI: 1347048 HomoloGene: 56546 GeneCards: CLCN7 | ||
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. In melanocytic cells this gene is regulated by the Microphthalmia-associated transcription factor.
Clinical significance
Mutations in the CLCN7 gene have been reported to be associated with autosomal dominant osteopetrosis type II, a rare disease of bones.
References
CLCN7 Wikipedia(Text) CC BY-SA