CLCN7

Also known as CLC-7, CLC7, OPTA2, OPTB4, PPP1R63, chloride voltage-gated channel 7, HOD

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.

In the Vinony graph

Within Vinony's link graph, CLCN7 is referenced by 361 other articles, and connects out to PubMed, Ensembl genome database project and water.

Vinony files it under Genes on human chromosome 16 and Ion channels.

Its subject is documented across 7 Wikipedia language editions.

Gene data

CLCN7

Name: Cl-/H+ antiporter 7
Type: protein-coding
Position: 1,444,934–1,475,104 (−)
Aliases: CLC-7, CLC7, HOD, OPTA2, OPTB4, PPP1R63
Ensembl: ENSG00000103249
RefSeq RNA: NM_001114331.3, NM_001287.6, XM_011522354.2, XM_054379536.1
RefSeq protein: NP_001107803.1, NP_001278.1, XP_011520656.1, XP_054235511.1

The product of this gene belongs to the CLC chloride channel family of proteins. Chloride channels play important roles in the plasma membrane and in intracellular organelles. This gene encodes chloride channel 7. Defects in this gene are the cause of osteopetrosis autosomal recessive type 4 (OPTB4), also called infantile malignant osteopetrosis type 2 as well as the cause of autosomal dominant osteopetrosis type 2 (OPTA2), also called autosomal dominant Albers-Schonberg disease or marble disease autosoml dominant. Osteopetrosis is a rare genetic disease characterized by abnormally dense bone, due to defective resorption of immature bone. OPTA2 is the most common form of osteopetrosis, occurring in adolescence or adulthood. [provided by RefSeq, Jul 2008].