Cl- Channel 7

From Anvita Health Wiki

Contents 1 Function 2 Structure 3 Compartment 4 Expression 5 Pathology 6 Notes 7 More General Terms 8 Internet Database 9 References

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

Internet Database

UniProt: [1]
Entrez gene: 1186
Kegg: [2]
OMIM: 166600
OMIM: 602727
OMIM: 611490
Prosite: [3]

References

1. UniProt [4]
2. GeneReviews [5]

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