CLCN4

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CLCN4
Identifiers
Aliases CLCN4, CLC4, ClC-4, ClC-4A, chloride voltage-gated channel 4
External IDs MGI: 104571 HomoloGene: 68207 GeneCards: 1183
RNA expression pattern
PBB GE CLCN4 205148 s at tn.png

PBB GE CLCN4 205149 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
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 Human View/Edit Mouse

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

Function[edit]

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[edit]

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

See also[edit]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: CLCN4 chloride channel 4". 
  3. ^ 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 3700577. PMID 23647072. 

Further reading[edit]

External links[edit]

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