CLCN4

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Chloride channel, voltage-sensitive 4
Identifiers
Symbols CLCN4 ; CLC4; ClC-4; ClC-4A
External IDs OMIM302910 MGI104571 HomoloGene68207 IUPHAR: ClC-4 GeneCards: CLCN4 Gene
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 1183 12727
Ensembl ENSG00000073464 ENSMUSG00000000605
UniProt P51793 Q61418
RefSeq (mRNA) NM_001256944 NM_011334
RefSeq (protein) NP_001243873 NP_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]

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]

Mutations in this gene have been linked to cases of early onset Epilepsy.(10.1111/epi.12201)

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 (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". 

Further reading[edit]

External links[edit]

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