CHRND

CHRND
Identifiers
Aliases	CHRND, ACHRD, CMS2A, FCCMS, SCCMS, CMS3A, CMS3B, CMS3C, cholinergic receptor nicotinic delta subunit
External IDs	OMIM: 100720; MGI: 87893; HomoloGene: 37340; GeneCards: CHRND; OMA:CHRND - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q37.1 Start 232,525,993 bp End 232,536,667 bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 C5|1 44.07 cM Start 87,118,329 bp End 87,127,792 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gastrocnemius muscle muscle of thigh testicle glutes skeletal muscle tissue tibialis anterior muscle mucosa of nose granulocyte Hypothalamus blood Top expressed in secondary oocyte tongue muscle zygote embryo primary oocyte muscle of thigh esophagus lip somite skeletal muscle tissue More reference expression data BioGPS More reference expression data
Gene ontology Molecular function acetylcholine binding ion channel activity extracellular ligand-gated ion channel activity ligand-gated ion channel activity acetylcholine-gated cation-selective channel activity transmembrane signaling receptor activity acetylcholine receptor activity transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential Cellular component integral component of membrane postsynaptic membrane membrane synapse cell junction acetylcholine-gated channel complex nucleoplasm cytosol plasma membrane neuromuscular junction integral component of postsynaptic specialization membrane integral component of plasma membrane neuron projection Biological process muscle contraction regulation of membrane potential skeletal muscle contraction response to nicotine cation transport synaptic transmission, cholinergic ion transport skeletal muscle tissue growth neuromuscular synaptic transmission neuromuscular process musculoskeletal movement signal transduction regulation of postsynaptic membrane potential excitatory postsynaptic potential cation transmembrane transport ion transmembrane transport chemical synaptic transmission nervous system process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1144 11447 Ensembl ENSG00000135902 ENSMUSG00000026251 UniProt Q07001 P02716 RefSeq (mRNA) NM_000751 NM_001256657 NM_001311195 NM_001311196 NM_021600 RefSeq (protein) NP_000742 NP_001243586 NP_001298124 NP_001298125 NP_067611 Location (UCSC) Chr 2: 232.53 – 232.54 Mb Chr 1: 87.12 – 87.13 Mb PubMed search
Wikidata
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Acetylcholine receptor subunit delta is a protein that in humans is encoded by the CHRND gene.

Function

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.

Interactions

CHRND has been shown to interact with Cholinergic receptor, nicotinic, alpha 1.

Clinical significance

Mutations in CHRND are known to cause the following conditions:

• 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

• Nicotinic acetylcholine receptor

Further reading

• 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

• 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.