Recombinant Human Chloride channel protein 1 (CLCN1), Truncated

Uniprot Id

P35523

Target Species

Human

Target Name

CLCN1

Target Full Name

Chloride channel protein 1

Target Function

Voltage-gated chloride channel. 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. The absence of conserved gating glutamate residues is typical for family members that function as channels.

Target Involvement

Myotonia congenita, autosomal dominant (MCAD); Myotonia congenita, autosomal recessive (MCAR)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein.

Target Protein Families

Chloride channel (TC 2.A.49) family, ClC-1/CLCN1 subfamily

Target Tissue Specificity

Predominantly expressed in skeletal muscles.

Target Synonyms

Chloride channel protein 1; Chloride channel protein; Chloride channel protein skeletal muscle; CIC 1; CIC1; ClC-1; CLC1; Clcn1; CLCN1_HUMAN; MGC138361; MGC142055; skeletal muscle

Target Background

The CLCN family of voltage-dependent chloride channel genes comprises nine members (CLCN1-7, Ka and Kb) which demonstrate quite diverse functional characteristics while sharing significant sequence homology. The protein encoded by this gene regulates the electric excitability of the skeletal muscle membrane. Mutations in this gene cause two forms of inherited human muscle disorders: recessive generalized myotonia congenita (Becker) and dominant myotonia (Thomsen). Alternative splicing results in multiple transcript variants.