CLCN4

Protein-coding gene in humans From Wikipedia, the free encyclopedia

H(+)/Cl(-) exchange transporter 4 is a protein that in humans is encoded by the CLCN4 gene.[5][6]

AliasesCLCN4, CLC4, ClC-4, ClC-4A, chloride voltage-gated channel 4, MRX15, MRX49, MRXSRC
End10,237,660 bp[1]
Quick facts Identifiers, Aliases ...
CLCN4
Identifiers
AliasesCLCN4, CLC4, ClC-4, ClC-4A, chloride voltage-gated channel 4, MRX15, MRX49, MRXSRC
External IDsOMIM: 302910; MGI: 104571; HomoloGene: 68207; GeneCards: CLCN4; OMA:CLCN4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001830
NM_001256944

RefSeq (protein)

NP_001243873
NP_001821

Location (UCSC)Chr X: 10.16 – 10.24 MbChr 7: 7.28 – 7.3 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse
Close

Function

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.[6]

Clinical significance

Mutations in this gene have been linked to cases of early onset epilepsy[7]

See also

References

Further reading

Related Articles

Wikiwand AI