CLCN4 gene

From NCBI Gene:

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]

From UniProt:

From NCBI Gene:

• Mental retardation 49, X-linked

From UniProt:

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. [MIM:300114]

Cytogenetic Location: Xp22.2, which is the short (p) arm of the X chromosome at position 22.2

Molecular Location: base pairs 10,156,945 to 10,237,660 on the X chromosome (Homo sapiens Updated Annotation Release 109.20200228, GRCh38.p13) (NCBI)

• ClC-4
• ClC-4A
• CLC4
• MRX15
• MRX49
• MRXSRC