Biology:CLCN4
 Generic protein structure example |
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
- ↑ "A gene from the Xp22.3 region shares homology with voltage-gated chloride channels". Hum Mol Genet 3 (4): 547–52. Sep 1994. doi:10.1093/hmg/3.4.547. PMID 8069296.
- ↑ 2.0 2.1 "Entrez Gene: CLCN4 chloride channel 4". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1183.
- ↑ "Exome sequencing reveals new causal mutations in children with epileptic encephalopathies". Epilepsia 54 (7): 1270–81. 2013. doi:10.1111/epi.12201. PMID 23647072.
Further reading
- "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. 1995. doi:10.1007/BF00223880. PMID 7759088.
- "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- "A new region of conservation is defined between human and mouse X chromosomes". Genomics 35 (1): 244–7. 1996. doi:10.1006/geno.1996.0347. PMID 8661129.
- "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- "Expression of CLCN voltage-gated chloride channel genes in human blood vessels". J. Mol. Cell. Cardiol. 31 (3): 657–66. 1999. doi:10.1006/jmcc.1998.0901. PMID 10198195.
- "Identification of an acid-activated Cl(-) channel from human skeletal muscles". Am. J. Physiol. 277 (5 Pt 1): C948–54. 1999. doi:10.1152/ajpcell.1999.277.5.C948. PMID 10564087.
- "Involvement of chloride channels in hepatic copper metabolism: ClC-4 promotes copper incorporation into ceruloplasmin". Gastroenterology 126 (4): 1157–66. 2004. doi:10.1053/j.gastro.2004.01.015. PMID 15057754.
- "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. 2004. doi:10.1101/gr.2435604. PMID 15342556.
- "Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5". Nature 436 (7049): 420–3. 2005. doi:10.1038/nature03720. PMID 16034421. Bibcode: 2005Natur.436..420P.
- "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. 2006. doi:10.1074/jbc.M507706200. PMID 16129671.
- "Crystal structure of the soluble form of the redox-regulated chloride ion channel protein CLIC4". FEBS J. 272 (19): 4996–5007. 2005. doi:10.1111/j.1742-4658.2005.04909.x. PMID 16176272.
- "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. 2006. doi:10.1096/fj.05-5588fje. PMID 17023393.
External links
- CLCN4+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
- Human CLCN4 genome location and CLCN4 gene details page in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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