CHRND

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Cholinergic receptor, nicotinic, delta (muscle)
Identifiers
Symbols CHRND ; ACHRD; CMS2A; FCCMS; SCCMS
External IDs OMIM100720 MGI87893 HomoloGene37340 IUPHAR: δ ChEMBL: 3011 GeneCards: CHRND Gene
RNA expression pattern
PBB GE CHRND 207024 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1144 11447
Ensembl ENSG00000135902 ENSMUSG00000026251
UniProt Q07001 P02716
RefSeq (mRNA) NM_000751 NM_021600
RefSeq (protein) NP_000742 NP_067611
Location (UCSC) Chr 2:
233.39 – 233.4 Mb
Chr 1:
87.19 – 87.2 Mb
PubMed search [1] [2]

Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene.[1]

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.[1]

Interactions[edit]

CHRND has been shown to interact with Cholinergic receptor, nicotinic, alpha 1.[2][3]

See also[edit]

References[edit]

  1. ^ a b "Entrez Gene: CHRND cholinergic receptor, nicotinic, delta". 
  2. ^ 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. 
  3. ^ 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. 

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: 17–27. doi:10.1111/j.1749-6632.1998.tb10907.x. PMID 9668219. 
  • 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. 
  • Luther MA, Schoepfer R, Whiting P, Casey B, Blatt Y, Montal MS et al. (1989). "A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671". J. Neurosci. 9 (3): 1082–96. 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 et al. (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 et al. (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 et al. (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. PMID 11782989. 
  • Shen XM, Ohno K, Fukudome T, Tsujino A, Brengman JM, De Vivo DC et al. (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. 

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.