CHRND: Difference between revisions
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{{Short description|Protein-coding gene in the species Homo sapiens}} |
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{{Infobox_gene}} |
{{Infobox_gene}} |
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'''Acetylcholine receptor subunit delta''' is a [[protein]] that in humans is encoded by the ''CHRND'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CHRND cholinergic receptor, nicotinic, delta| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1144}}</ref> |
'''Acetylcholine receptor subunit delta''' is a [[protein]] that in humans is encoded by the ''CHRND'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: CHRND cholinergic receptor, nicotinic, delta| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1144}}</ref> |
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CHRND has been shown to [[Protein-protein interaction|interact]] with [[Cholinergic receptor, nicotinic, alpha 1]].<ref name=pmid7695910>{{cite journal | vauthors = Kreienkamp HJ, Maeda RK, Sine SM, Taylor P | title = Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor | journal = Neuron | volume = 14 | issue = 3 | pages = 635–44 | date = March 1995 | pmid = 7695910 | doi = 10.1016/0896-6273(95)90320-8 | doi-access = free }}</ref><ref name=pmid8910344>{{cite journal | vauthors = Wang ZZ, Hardy SF, Hall ZW | title = Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo | journal = J. Biol. Chem. | volume = 271 | issue = 44 | pages = 27575–84 | date = November 1996 | pmid = 8910344 | doi = 10.1074/jbc.271.44.27575 | doi-access = free }}</ref> |
CHRND has been shown to [[Protein-protein interaction|interact]] with [[Cholinergic receptor, nicotinic, alpha 1]].<ref name=pmid7695910>{{cite journal | vauthors = Kreienkamp HJ, Maeda RK, Sine SM, Taylor P | title = Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor | journal = Neuron | volume = 14 | issue = 3 | pages = 635–44 | date = March 1995 | pmid = 7695910 | doi = 10.1016/0896-6273(95)90320-8 | doi-access = free }}</ref><ref name=pmid8910344>{{cite journal | vauthors = Wang ZZ, Hardy SF, Hall ZW | title = Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo | journal = J. Biol. Chem. | volume = 271 | issue = 44 | pages = 27575–84 | date = November 1996 | pmid = 8910344 | doi = 10.1074/jbc.271.44.27575 | doi-access = free }}</ref> |
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== Clinical significance == |
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Mutations in CHRND are known to cause the following conditions:<ref>{{Cite web |title=UniProt |url=https://www.uniprot.org/uniprotkb/Q07001/entry |access-date=2023-07-08 |website=www.uniprot.org}}</ref> |
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* Multiple pterygium syndrome, lethal type (LMPS); |
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* Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A); |
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* Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B); |
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* Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C). |
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== See also == |
== See also == |
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Latest revision as of 04:21, 9 July 2023
Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene.[5]
Function
[edit]The acetylcholine receptor of muscle has 5 subunits of 4 different types: 2 alpha and 1 each of beta, gamma and delta subunits. After acetylcholine binding, the receptor undergoes an extensive conformation change that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane.[5]
Interactions
[edit]CHRND has been shown to interact with Cholinergic receptor, nicotinic, alpha 1.[6][7]
Clinical significance
[edit]Mutations in CHRND are known to cause the following conditions:[8]
- Multiple pterygium syndrome, lethal type (LMPS);
- Myasthenic syndrome, congenital, 3A, slow-channel (CMS3A);
- Myasthenic syndrome, congenital, 3B, fast-channel (CMS3B);
- Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CMS3C).
See also
[edit]References
[edit]- ^ a b c GRCh38: Ensembl release 89: ENSG00000135902 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000026251 – 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.
- ^ a b "Entrez Gene: CHRND cholinergic receptor, nicotinic, delta".
- ^ Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (March 1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–44. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
- ^ Wang ZZ, Hardy SF, Hall ZW (November 1996). "Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo". J. Biol. Chem. 271 (44): 27575–84. doi:10.1074/jbc.271.44.27575. PMID 8910344.
- ^ "UniProt". www.uniprot.org. Retrieved 2023-07-08.
Further reading
[edit]- Colledge M, Froehner SC (1998). "Interaction between the nicotinic acetylcholine receptor and Grb2. Implications for signaling at the neuromuscular junction". Ann. N. Y. Acad. Sci. 841 (1): 17–27. Bibcode:1998NYASA.841...17C. doi:10.1111/j.1749-6632.1998.tb10907.x. PMID 9668219. S2CID 41992031.
- Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J (1990). "Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17". Ann. Hum. Genet. 54 (Pt 3): 199–208. doi:10.1111/j.1469-1809.1990.tb00378.x. PMID 2221824. S2CID 151624.
- Luther MA, Schoepfer R, Whiting P, Casey B, Blatt Y, Montal MS, Montal M, Linstrom J (1989). "A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671". J. Neurosci. 9 (3): 1082–96. doi:10.1523/JNEUROSCI.09-03-01082.1989. PMC 6569985. PMID 2564429.
- Kreienkamp HJ, Maeda RK, Sine SM, Taylor P (1995). "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron. 14 (3): 635–44. doi:10.1016/0896-6273(95)90320-8. PMID 7695910.
- Pasteris NG, Trask BJ, Sheldon S, Gorski JL (1993). "Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35". Hum. Mol. Genet. 2 (7): 953–9. doi:10.1093/hmg/2.7.953. PMID 8103404.
- Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM (1996). "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome". Hum. Mol. Genet. 5 (9): 1217–27. doi:10.1093/hmg/5.9.1217. PMID 8872460.
- Wang ZZ, Hardy SF, Hall ZW (1996). "Assembly of the nicotinic acetylcholine receptor. The first transmembrane domains of truncated alpha and delta subunits are required for heterodimer formation in vivo". J. Biol. Chem. 271 (44): 27575–84. doi:10.1074/jbc.271.44.27575. PMID 8910344.
- Brownlow S, Webster R, Croxen R, Brydson M, Neville B, Lin JP, Vincent A, Newsom-Davis J, Beeson D (2001). "Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita". J. Clin. Invest. 108 (1): 125–30. doi:10.1172/JCI12935. PMC 209343. PMID 11435464.
- Gomez CM, Maselli RA, Vohra BP, Navedo M, Stiles JR, Charnet P, Schott K, Rojas L, Keesey J, Verity A, Wollmann RW, Lasalde-Dominicci J (2002). "Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms". Ann. Neurol. 51 (1): 102–12. doi:10.1002/ana.10077. PMC 4841278. PMID 11782989.
- Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC, Packer RJ, Engel AG (2002). "Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation". Neurology. 59 (12): 1881–8. doi:10.1212/01.wnl.0000042422.87384.2f. PMID 12499478. S2CID 35612575.
External links
[edit]- CHRND+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Human CHRND genome location and CHRND 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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