CHRNA1

Cholinergic receptor, nicotinic, alpha 1 (muscle), also known as CHRNA1, is a human gene.cite web | title = Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1134| accessdate = ]

PBB_Summary
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summary_text = The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha isoforms and 1 each of beta, gamma, and delta subunits.2 This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified.cite web | title = Entrez Gene: CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1134| accessdate = ]

ee also

* Nicotinic acetylcholine receptor

References

Further reading

PBB_Further_reading
citations =
*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, Morris A, Vincent A, Newsom-Davis J |title=The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon. |journal=EMBO J. |volume=9 |issue= 7 |pages= 2101–6 |year= 1990 |pmid= 1694127 |doi=
*cite journal | author=Yu XM, Hall ZW |title=Extracellular domains mediating epsilon subunit interactions of muscle acetylcholine receptor. |journal=Nature |volume=352 |issue= 6330 |pages= 64–7 |year= 1991 |pmid= 1712080 |doi= 10.1038/352064a0
*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=Hohlfeld R, Toyka KV, Miner LL, "et al." |title=Amphipathic segment of the nicotinic receptor alpha subunit contains epitopes recognized by T lymphocytes in myasthenia gravis. |journal=J. Clin. Invest. |volume=81 |issue= 3 |pages= 657–60 |year= 1988 |pmid= 2449458 |doi=
*cite journal | author=Schoepfer R, Luther M, Lindstrom J |title=The human medulloblastoma cell line TE671 expresses a muscle-like acetylcholine receptor. Cloning of the alpha-subunit cDNA. |journal=FEBS Lett. |volume=226 |issue= 2 |pages= 235–40 |year= 1988 |pmid= 3338555 |doi=
*cite journal | author=Oosterhuis HJ, Newsom-Davis J, Wokke JH, "et al." |title=The slow channel syndrome. Two new cases. |journal=Brain |volume=110 ( Pt 4) |issue= |pages= 1061–79 |year= 1987 |pmid= 3651795 |doi=
*cite journal | author=Noda M, Furutani Y, Takahashi H, "et al." |title=Cloning and sequence analysis of calf cDNA and human genomic DNA encoding alpha-subunit precursor of muscle acetylcholine receptor. |journal=Nature |volume=305 |issue= 5937 |pages= 818–23 |year= 1983 |pmid= 6688857 |doi=
*cite journal | author=Vincent A, Cull-Candy SG, Newsom-Davis J, "et al." |title=Congenital myasthenia: end-plate acetylcholine receptors and electrophysiology in five cases. |journal=Muscle Nerve |volume=4 |issue= 4 |pages= 306–18 |year= 1981 |pmid= 7254233 |doi= 10.1002/mus.880040407
*cite journal | author=Sine SM, Ohno K, Bouzat C, "et al." |title=Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity. |journal=Neuron |volume=15 |issue= 1 |pages= 229–39 |year= 1995 |pmid= 7619526 |doi=
*cite journal | author=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 |year= 1995 |pmid= 7695910 |doi=
*cite journal | author=Gattenlöhner S, Brabletz T, Schultz A, "et al." |title=Cloning of a cDNA coding for the acetylcholine receptor alpha-subunit from a thymoma associated with myasthenia [correction of myastenia] gravis. |journal=Thymus |volume=23 |issue= 2 |pages= 103–13 |year= 1995 |pmid= 7725386 |doi=
*cite journal | author=Chauplannaz G, Bady B |title= [Hereditary myasthenic syndromes with late onset. Value of electrophysiological tests] |journal=Rev. Neurol. (Paris) |volume=150 |issue= 2 |pages= 142–8 |year= 1995 |pmid= 7863154 |doi=
*cite journal | author=Lobos EA |title=Five subunit genes of the human muscle nicotinic acetylcholine receptor are mapped to two linkage groups on chromosomes 2 and 17. |journal=Genomics |volume=17 |issue= 3 |pages= 642–50 |year= 1993 |pmid= 7902325 |doi= 10.1006/geno.1993.1384
*cite journal | author=Green WN, Claudio T |title=Acetylcholine receptor assembly: subunit folding and oligomerization occur sequentially. |journal=Cell |volume=74 |issue= 1 |pages= 57–69 |year= 1993 |pmid= 8334706 |doi=
*cite journal | author=Talib S, Okarma TB, Lebkowski JS |title=Differential expression of human nicotinic acetylcholine receptor alpha subunit variants in muscle and non-muscle tissues. |journal=Nucleic Acids Res. |volume=21 |issue= 2 |pages= 233–7 |year= 1993 |pmid= 8441631 |doi=
*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=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 |year= 1996 |pmid= 8910344 |doi=
*cite journal | author=Croxen R, Newland C, Beeson D, "et al." |title=Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome. |journal=Hum. Mol. Genet. |volume=6 |issue= 5 |pages= 767–74 |year= 1997 |pmid= 9158151 |doi=
*cite journal | author=Milone M, Wang HL, Ohno K, "et al." |title=Slow-channel myasthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity attributable to mutation in the M2 domain of the acetylcholine receptor alpha subunit. |journal=J. Neurosci. |volume=17 |issue= 15 |pages= 5651–65 |year= 1997 |pmid= 9221765 |doi=

External links

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