CHRNB1

CHRNB1

Cholinergic receptor, nicotinic, beta 1 (muscle), also known as CHRNB1, is a human gene.cite web | title = Entrez Gene: CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1140| accessdate = ]

PBB_Summary
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summary_text = The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acetylcholine binding leading to the opening of an ion-conducting channel across the plasma membrane. Mutations in this gene are associated with slow-channel congenital myasthenic syndrome.cite web | title = Entrez Gene: CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1140| accessdate = ]

ee also

* Nicotinic acetylcholine receptor

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Kraus H |title=Research methods in the biomechanics of sports. |journal=Orthop. Clin. North Am. |volume=8 |issue= 3 |pages= 549–62 |year= 1977 |pmid= 887246 |doi=
*cite journal | author=Bracci L, Lozzi L, Rustici M, Neri P |title=Binding of HIV-1 gp120 to the nicotinic receptor. |journal=FEBS Lett. |volume=311 |issue= 2 |pages= 115–8 |year= 1992 |pmid= 1397297 |doi=
*cite journal | author=Beeson D, Jeremiah S, West LF, "et al." |title=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. |journal=Ann. Hum. Genet. |volume=54 |issue= Pt 3 |pages= 199–208 |year= 1990 |pmid= 2221824 |doi=
*cite journal | author=Beeson D, Brydson M, Newsom-Davis J |title=Nucleotide sequence of human muscle acetylcholine receptor beta-subunit. |journal=Nucleic Acids Res. |volume=17 |issue= 11 |pages= 4391 |year= 1989 |pmid= 2740233 |doi=
*cite journal | author=Gomez CM, Maselli R, Gammack J, "et al." |title=A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome. |journal=Ann. Neurol. |volume=39 |issue= 6 |pages= 712–23 |year= 1996 |pmid= 8651643 |doi= 10.1002/ana.410390607
*cite journal | author=Engel AG, Ohno K, Milone M, "et al." |title=New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. |journal=Hum. Mol. Genet. |volume=5 |issue= 9 |pages= 1217–27 |year= 1997 |pmid= 8872460 |doi=
*cite journal | author=Quiram PA, Ohno K, Milone M, "et al." |title=Mutation causing congenital myasthenia reveals acetylcholine receptor beta/delta subunit interaction essential for assembly. |journal=J. Clin. Invest. |volume=104 |issue= 10 |pages= 1403–10 |year= 1999 |pmid= 10562302 |doi=
*cite journal | author=Cousin P, Billotte J, Chaubert P, Shaw P |title=Physical map of 17p13 and the genes adjacent to p53. |journal=Genomics |volume=63 |issue= 1 |pages= 60–8 |year= 2000 |pmid= 10662545 |doi= 10.1006/geno.1999.6062
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Sadasivam G, Willmann R, Lin S, "et al." |title=Src-family kinases stabilize the neuromuscular synapse in vivo via protein interactions, phosphorylation, and cytoskeletal linkage of acetylcholine receptors. |journal=J. Neurosci. |volume=25 |issue= 45 |pages= 10479–93 |year= 2006 |pmid= 16280586 |doi= 10.1523/JNEUROSCI.2103-05.2005
*cite journal | author=Lou XY, Ma JZ, Payne TJ, "et al." |title=Gene-based analysis suggests association of the nicotinic acetylcholine receptor beta1 subunit (CHRNB1) and M1 muscarinic acetylcholine receptor (CHRM1) with vulnerability for nicotine dependence. |journal=Hum. Genet. |volume=120 |issue= 3 |pages= 381–9 |year= 2007 |pmid= 16874522 |doi= 10.1007/s00439-006-0229-7

External links

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