Biology:CHRND

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

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

• "Interaction between the nicotinic acetylcholine receptor and Grb2. Implications for signaling at the neuromuscular junction". Ann. N. Y. Acad. Sci. 841 (1): 17–27. 1998. doi:10.1111/j.1749-6632.1998.tb10907.x. PMID 9668219. Bibcode: 1998NYASA.841...17C. 
• "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. 1990. doi:10.1111/j.1469-1809.1990.tb00378.x. PMID 2221824. 
• "A muscle acetylcholine receptor is expressed in the human cerebellar medulloblastoma cell line TE671". J. Neurosci. 9 (3): 1082–96. 1989. doi:10.1523/JNEUROSCI.09-03-01082.1989. PMID 2564429. 
• "Intersubunit contacts governing assembly of the mammalian nicotinic acetylcholine receptor". Neuron 14 (3): 635–44. 1995. doi:10.1016/0896-6273(95)90320-8. PMID 7695910. 
• "Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35". Hum. Mol. Genet. 2 (7): 953–9. 1993. doi:10.1093/hmg/2.7.953. PMID 8103404. 
• "New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome". Hum. Mol. Genet. 5 (9): 1217–27. 1996. doi:10.1093/hmg/5.9.1217. PMID 8872460. 
• "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. 1996. doi:10.1074/jbc.271.44.27575. PMID 8910344. 
• "Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita". J. Clin. Invest. 108 (1): 125–30. 2001. doi:10.1172/JCI12935. PMID 11435464. 
• "Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms". Ann. Neurol. 51 (1): 102–12. 2002. doi:10.1002/ana.10077. PMID 11782989. 
• "Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation". Neurology 59 (12): 1881–8. 2002. doi:10.1212/01.wnl.0000042422.87384.2f. PMID 12499478. 

External links

• CHRND+protein,+human at the US 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.