H+/Cl- exchange transporter 7; chloride channel protein 7; ClC-7 (CLCN7)

Function

• mediates the exchange of Cl- against H+
• functions as antiporter & contributes to the acidification of the lysosome lumen

Structure

• belongs to the chloride channel (TC 2.A.49) family
• contains 2 CBS domains

Compartment

• lysosome membrane; multi-pass membrane protein

Expression

brain, testis, muscle & kidney

Pathology

• defects in CLCN7 are the cause of osteopetrosis autosomal recessive type 4
• defects in CLCN7 are a cause of osteopetrosis autosomal dominant type 2

Notes

• the CLC channel family contains both chloride channels & proton-coupled anion transporters that exchange chloride or another anion for protons
• the presence of conserved gating Glu is typical for family members that function as antiporters (putative)

More general terms

• Cl- channel
• phosphoprotein
• transmembrane 10 protein

Database

• UniProt: http://www.uniprot.org/uniprot/P51798.html
• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1186
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1186
• OMIM: https://mirror.omim.org/entry/166600
• OMIM: https://mirror.omim.org/entry/602727
• OMIM: https://mirror.omim.org/entry/611490