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CLCN4

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Identifiers
SymbolsCLCN4 ; CLC4; ClC-4; ClC-4A
External IDsOMIM302910 MGI104571 HomoloGene68207 IUPHAR: 703 GeneCards: CLCN4 Gene
RNA expression pattern
File:PBB GE CLCN4 205148 s at tn.png
File:PBB GE CLCN4 205149 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez118312727
EnsemblENSG00000073464ENSMUSG00000000605
UniProtP51793Q61418
RefSeq (mRNA)NM_001256944NM_011334
RefSeq (protein)NP_001243873NP_035464
Location (UCSC)Chr X:
10.13 – 10.21 Mb
Chr 7:
7.28 – 7.3 Mb
PubMed search[1][2]

H(+)/Cl(-) exchange transporter 4 is a protein that in humans is encoded by the CLCN4 gene.[1][2]

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.[2]

Clinical significance

Mutations in this gene have been linked to cases of early onset epilepsy[3]

See also

References

  1. ^ van Slegtenhorst MA, Bassi MT, Borsani G, Wapenaar MC, Ferrero GB, de Conciliis L et al. (Sep 1994). "A gene from the Xp22.3 region shares homology with voltage-gated chloride channels". Hum Mol Genet 3 (4): 547–52. PMID 8069296. doi:10.1093/hmg/3.4.547. 
  2. ^ a b "Entrez Gene: CLCN4 chloride channel 4". 
  3. ^ Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J et al. (2013). "Exome sequencing reveals new causal mutations in children with epileptic encephalopathies". Epilepsia 54 (7): 1270–81. PMC 3700577. PMID 23647072. doi:10.1111/epi.12201. 

Further reading

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External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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