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Gene Review

CHRNB1  -  cholinergic receptor, nicotinic, beta 1...

Homo sapiens

Synonyms: ACHRB, Acetylcholine receptor subunit beta, CHRNB, CMS1D, CMS2A, ...
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Disease relevance of CHRNB1

  • Additional candidate genes clearly must be evaluated in order to determine the precise role chromosome 17 and p53 alterations play in endometriosis; however, additional genes seem unlikely to involve region connoted by HGH, D17S250 or CHRNB1 [1].
  • No evidence for an association of AChR beta-subunit gene (CHRNB1) with myasthenia gravis [2].
  • Interestingly however, the shortest four variants of the CHRNB1 microsatellite were seen only in patients with thymus hyperplasia and in none of the control subjects (P < 0.0025) [2].

High impact information on CHRNB1


Biological context of CHRNB1

  • LoH for other alleles on chromosome 17 was observed less often, namely only 3 of 15 specimens for HGH, 1 of 15 for D17S250, and 0 of 15 for CHRNB1 [1].

Associations of CHRNB1 with chemical compounds


  1. Somatic DNA alterations in endometriosis: high frequency of chromosome 17 and p53 loss in late-stage endometriosis. Bischoff, F.Z., Heard, M., Simpson, J.L. J. Reprod. Immunol. (2002) [Pubmed]
  2. No evidence for an association of AChR beta-subunit gene (CHRNB1) with myasthenia gravis. Djabiri, F., Gajdos, P., Eymard, B., Gomez, L., Bach, J.F., Garchon, H.J. J. Neuroimmunol. (1997) [Pubmed]
  3. Loss of heterozygosity studies on chromosome 17 in head and neck cancer using microsatellite markers. Adamson, R., Jones, A.S., Field, J.K. Oncogene (1994) [Pubmed]
  4. 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. Beeson, D., Jeremiah, S., West, L.F., Povey, S., Newsom-Davis, J. Ann. Hum. Genet. (1990) [Pubmed]
  5. Assignment of the beta subunit of the muscle nicotinic acetylcholine receptor gene (CHRNB1) to sheep chromosome 11. Pearce, P.D., Ansari, H.A., Maher, D.W., Malcolm, A.A., Wood, N.J., Phua, S.H., Broad, T.E. Cytogenet. Cell Genet. (1993) [Pubmed]
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