CLCN4


Description

The CLCN4 (chloride voltage-gated channel 4) is a protein-coding gene located on chromosome X.

CLCN4 is a gene that encodes the H(+)/Cl(-) exchange transporter 4 protein. It is a member of the CLCN family of voltage-dependent chloride channel genes, which comprises nine members with diverse functional characteristics. CLCN4 is conserved in mouse and hamster and is located on the human X chromosome at band p22.3. While its physiological role is unknown, mutations in CLCN4 have been linked to early onset epilepsy.

CLCN4 is a strongly outwardly rectifying, electrogenic H(+)/Cl(-) exchanger that mediates the exchange of chloride ions against protons. It belongs to the CLC channel family, which includes both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons. The presence of conserved gating glutamate residues is typical for family members that function as antiporters.

CLCN4 is also known as CLC4, ClC-4, ClC-4A, MRX15, MRX49, MRXSRC.

Associated Diseases


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