CLCN4

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. Chloride channel 4 has an evolutionary conserved CpG island and is conserved in both mouse and hamster. This gene is mapped in close proximity to APXL (Apical protein Xenopus laevis-like) and OA1 (Ocular albinism type I), which are both located on the human X chromosome at band p22.3. The physiological role of chloride channel 4 remains unknown but may contribute to the pathogenesis of neuronal disorders. Alternate splicing results in two transcript variants that encode different proteins. [provided by RefSeq, Mar 2012]

Chloride Voltage-Gated Channel 4

Strongly outwardly rectifying, electrogenic H+/Cl-exchanger which mediates the exchange of chloride ions against protons (PubMed:18063579, PubMed:28972156, PubMed:23647072, PubMed:27550844, PubMed:25644381).

The CLC channel family contains both chloride channels and proton-coupled anion transporters that exchange chloride or another anion for protons (PubMed:29845874).

The presence of conserved gating glutamate residues is typical for family members that function as antiporters (PubMed:29845874).

Chloride transport Source: MGI
Ion transmembrane transport Source: Reactome

Endoplasmic reticulum membrane; Early endosome membrane; Late endosome membrane; Recycling endosome membrane; Lysosome membrane. Localizes to late endosome membrane, lysosome membrane and recycling endosome membrane in the presence of CLCN3.

Raynaud-Claes syndrome (MRXSRC):
An X-linked syndrome characterized by borderline to severe intellectual disability and impaired language development. Additional features include behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms.

Cytoplasmic: 1-67
Helical: 68-105
Helical: 151-174
Helical: 183-190
Helical: 200-218
Helical: 224-243
Helical: 255-267
Helical: 271-279
Helical: 291-309
Helical: 333-358
Helical: 365-385
Helical: 442-462
Helical: 467-486
Helical: 514-528
Helical: 532-543
Loop between two helices: 544-547
Helical: 548-566
Cytoplasmic: 567-760