CLCN4

CLCN4
Identifiers
Aliases CLCN4, CLC4, ClC-4, ClC-4A, chloride voltage-gated channel 4
External IDs MGI: 104571 HomoloGene: 68207 GeneCards: CLCN4
RNA expression pattern


More reference expression data
Orthologs
Species Human Mouse
Entrez

1183

12727

Ensembl

ENSG00000073464

ENSMUSG00000000605

UniProt

P51793

Q61418

RefSeq (mRNA)

NM_001830
NM_001256944

NM_011334
NM_001302386
NM_001302387

RefSeq (protein)

NP_001243873.1
NP_001821.2

NP_035464.3

Location (UCSC) Chr X: 10.16 – 10.24 Mb Chr 7: 7.28 – 7.3 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

H(+)/Cl(-) exchange transporter 4 is a protein that in humans is encoded by the CLCN4 gene.[3][4]

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.[4]

Clinical significance

Mutations in this gene have been linked to cases of early onset epilepsy[5]

See also

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. van Slegtenhorst MA, Bassi MT, Borsani G, Wapenaar MC, Ferrero GB, de Conciliis L, Rugarli EI, Grillo A, Franco B, Zoghbi HY, Ballabio A (Sep 1994). "A gene from the Xp22.3 region shares homology with voltage-gated chloride channels". Hum Mol Genet. 3 (4): 547–52. doi:10.1093/hmg/3.4.547. PMID 8069296.
  4. 1 2 "Entrez Gene: CLCN4 chloride channel 4".
  5. Veeramah KR, Johnstone L, Karafet TM, Wolf D, Sprissler R, Salogiannis J, Barth-Maron A, Greenberg ME, Stuhlmann T, Weinert S, Jentsch TJ, Pazzi M, Restifo LL, Talwar D, Erickson RP, Hammer MF (2013). "Exome sequencing reveals new causal mutations in children with epileptic encephalopathies". Epilepsia. 54 (7): 1270–81. doi:10.1111/epi.12201. PMC 3700577Freely accessible. PMID 23647072.

Further reading

External links

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


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