CLCN4
| Chloride channel, voltage-sensitive 4 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | CLCN4 ; CLC4; ClC-4; ClC-4A | ||||||||||||
| External IDs | OMIM: 302910 MGI: 104571 HomoloGene: 68207 IUPHAR: 703 GeneCards: CLCN4 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| 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 | |||||||||||||
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
- ↑ 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. doi:10.1093/hmg/3.4.547. PMID 8069296.
- ↑ 2.0 2.1 "Entrez Gene: CLCN4 chloride channel 4".
- ↑ 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. doi:10.1111/epi.12201. PMC 3700577. PMID 23647072.
Further reading
- Schnur RE, Wick PA (1995). "Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS)". Hum. Genet. 95 (5): 594–5. doi:10.1007/BF00223880. PMID 7759088.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Dinulos MB, Bassi MT, Rugarli EI, Chapman V, Ballabio A, Disteche CM (1996). "A new region of conservation is defined between human and mouse X chromosomes". Genomics 35 (1): 244–7. doi:10.1006/geno.1996.0347. PMID 8661129.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Lamb FS, Clayton GH, Liu BX, Smith RL, Barna TJ, Schutte BC (1999). "Expression of CLCN voltage-gated chloride channel genes in human blood vessels". J. Mol. Cell. Cardiol. 31 (3): 657–66. doi:10.1006/jmcc.1998.0901. PMID 10198195.
- Kawasaki M, Fukuma T, Yamauchi K, Sakamoto H, Marumo F, Sasaki S (1999). "Identification of an acid-activated Cl(-) channel from human skeletal muscles". Am. J. Physiol. 277 (5 Pt 1): C948–54. PMID 10564087.
- Wang T, Weinman SA (2004). "Involvement of chloride channels in hepatic copper metabolism: ClC-4 promotes copper incorporation into ceruloplasmin". Gastroenterology 126 (4): 1157–66. doi:10.1053/j.gastro.2004.01.015. PMID 15057754.
- Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J et al. (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
- Picollo A, Pusch M (2005). "Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5". Nature 436 (7049): 420–3. doi:10.1038/nature03720. PMID 16034421.
- Huang L, Cao J, Wang H, Vo LA, Brand JG (2006). "Identification and Functional Characterization of a Voltage-gated Chloride Channel and Its Novel Splice Variant in Taste Bud Cells". J. Biol. Chem. 280 (43): 36150–7. doi:10.1074/jbc.M507706200. PMC 2367165. PMID 16129671.
- Littler DR, Assaad NN, Harrop SJ, Brown LJ, Pankhurst GJ, Luciani P et al. (2005). "Crystal structure of the soluble form of the redox-regulated chloride ion channel protein CLIC4". FEBS J. 272 (19): 4996–5007. doi:10.1111/j.1742-4658.2005.04909.x. PMID 16176272.
- Okkenhaug H, Weylandt KH, Carmena D, Wells DJ, Higgins CF, Sardini A (2006). "The human ClC-4 protein, a member of the CLC chloride channel/transporter family, is localized to the endoplasmic reticulum by its N-terminus". FASEB J. 20 (13): 2390–2. doi:10.1096/fj.05-5588fje. PMID 17023393.
External links
- CLCN4 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
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This article incorporates text from the United States National Library of Medicine, which is in the public domain.