CLCN4

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.

Mutations in this gene have been linked to cases of early onset epilepsy{{cite journal | vauthors = 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 | title = Exome sequencing reveals new causal mutations in children with epileptic encephalopathies | journal = Epilepsia | volume = 54 | issue = 7 | pages = 1270–81 | year = 2013 | pmid = 23647072 | pmc = 3700577 | doi = 10.1111/epi.12201 }}

• Chloride channel

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• {{cite journal | vauthors = Schnur RE, Wick PA | title = 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) | journal = Hum. Genet. | volume = 95 | issue = 5 | pages = 594–5 | year = 1995 | pmid = 7759088 | doi = 10.1007/BF00223880 | s2cid = 6494341 }}
• {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–4 | year = 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
• {{cite journal | vauthors = Dinulos MB, Bassi MT, Rugarli EI, Chapman V, Ballabio A, Disteche CM | title = A new region of conservation is defined between human and mouse X chromosomes | journal = Genomics | volume = 35 | issue = 1 | pages = 244–7 | year = 1996 | pmid = 8661129 | doi = 10.1006/geno.1996.0347 }}
• {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–56 | year = 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
• {{cite journal | vauthors = Lamb FS, Clayton GH, Liu BX, Smith RL, Barna TJ, Schutte BC | title = Expression of CLCN voltage-gated chloride channel genes in human blood vessels | journal = J. Mol. Cell. Cardiol. | volume = 31 | issue = 3 | pages = 657–66 | year = 1999 | pmid = 10198195 | doi = 10.1006/jmcc.1998.0901 }}
• {{cite journal | vauthors = Kawasaki M, Fukuma T, Yamauchi K, Sakamoto H, Marumo F, Sasaki S | title = Identification of an acid-activated Cl(-) channel from human skeletal muscles | journal = Am. J. Physiol. | volume = 277 | issue = 5 Pt 1 | pages = C948–54 | year = 1999 | doi = 10.1152/ajpcell.1999.277.5.C948 | pmid = 10564087 }}
• {{cite journal | vauthors = Wang T, Weinman SA | title = Involvement of chloride channels in hepatic copper metabolism: ClC-4 promotes copper incorporation into ceruloplasmin | journal = Gastroenterology | volume = 126 | issue = 4 | pages = 1157–66 | year = 2004 | pmid = 15057754 | doi = 10.1053/j.gastro.2004.01.015 | doi-access = free }}
• {{cite journal | vauthors = Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S | title = Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions | journal = Genome Res. | volume = 14 | issue = 9 | pages = 1711–8 | year = 2004 | pmid = 15342556 | pmc = 515316 | doi = 10.1101/gr.2435604 }}
• {{cite journal | vauthors = Picollo A, Pusch M | title = Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5 | journal = Nature | volume = 436 | issue = 7049 | pages = 420–3 | year = 2005 | pmid = 16034421 | doi = 10.1038/nature03720 | bibcode = 2005Natur.436..420P | s2cid = 4389450 }}
• {{cite journal | vauthors = Huang L, Cao J, Wang H, Vo LA, Brand JG | title = Identification and Functional Characterization of a Voltage-gated Chloride Channel and Its Novel Splice Variant in Taste Bud Cells | journal = J. Biol. Chem. | volume = 280 | issue = 43 | pages = 36150–7 | year = 2006 | pmid = 16129671 | pmc = 2367165 | doi = 10.1074/jbc.M507706200 | doi-access = free }}
• {{cite journal | vauthors = Littler DR, Assaad NN, Harrop SJ, Brown LJ, Pankhurst GJ, Luciani P, Aguilar MI, Mazzanti M, Berryman MA, Breit SN, Curmi PM | title = Crystal structure of the soluble form of the redox-regulated chloride ion channel protein CLIC4 | journal = FEBS J. | volume = 272 | issue = 19 | pages = 4996–5007 | year = 2005 | pmid = 16176272 | doi = 10.1111/j.1742-4658.2005.04909.x | doi-access = free }}
• {{cite journal | vauthors = Okkenhaug H, Weylandt KH, Carmena D, Wells DJ, Higgins CF, Sardini A | title = The human ClC-4 protein, a member of the CLC chloride channel/transporter family, is localized to the endoplasmic reticulum by its N-terminus | journal = FASEB J. | volume = 20 | issue = 13 | pages = 2390–2 | year = 2006 | pmid = 17023393 | doi = 10.1096/fj.05-5588fje | doi-access = free | s2cid = 24433478 }}

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• {{MeshName|CLCN4+protein,+human}}
• {{UCSC gene info|CLCN4}}

{{Ion channels|g4}}

{{NLM content}}

Category:Ion channels

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