Gene: CLCN4

Alternate names for this Gene: CLC4|ClC-4|ClC-4A|MRX15|MRX49|MRXSRC

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.2

Description of this Gene: chloride voltage-gated channel 4

Type of Gene: protein-coding

rs587777161 in CLCN4 gene and MENTAL RETARDATION, X-LINKED 15 PMID 23647072 2013 Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.

PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

rs587777161 in CLCN4 gene and Poor school performance PMID 27550844 2018 De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females.