CLCN4
| CLCN4 | |||
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Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
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| UniProt | |||||||||
| RefSeq (mRNA) |
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| RefSeq (protein) |
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| Location (UCSC) | Chr X: 10.16 – 10.24 Mb | Chr 7: 7.28 – 7.3 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
H(+)/Cl(-) exchange transporter 4 is a protein that in humans is encoded by the CLCN4 gene.[5][6]
Function
The CLCN family of voltage-dependent
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.[6]
Clinical significance
Mutations in this gene have been linked to cases of early onset epilepsy[7]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000073464 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000605 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- PMID 8069296.
- ^ a b "Entrez Gene: CLCN4 chloride channel 4".
- 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. S2CID 6494341.
- 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. 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. 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. 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. 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. PMID 15057754.
- Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. 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. S2CID 4389450.
- 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. PMID 16129671.
- Littler DR, Assaad NN, Harrop SJ, Brown LJ, Pankhurst GJ, Luciani P, Aguilar MI, Mazzanti M, Berryman MA, Breit SN, Curmi PM (2005). "Crystal structure of the soluble form of the redox-regulated chloride ion channel protein CLIC4". FEBS J. 272 (19): 4996–5007. 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. S2CID 24433478.
External links
- CLCN4+protein,+human at the U.S. 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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