FEATURES

FAMILY

DESCRIPTION

Also known as CLCN1_HUMAN, CLCN1, CLC1. Voltage-gated chloride channel (PubMed:8112288, PubMed:9122265, PubMed:12456816). Plays an important role in membrane repolarization in skeletal muscle cells after muscle contraction. The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (Probable). The absence of conserved gating glutamate residues is typical for family members that function as channels (Probable). Homodimer.

EXTERNAL LINKS

uniprot
enzyme classification
PhosphoSitePlus

CLCN1

Mutations

Mutation(s) distribution

Mutations table