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CHRNG  -  cholinergic receptor, nicotinic, gamma...

Homo sapiens

 
 
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Disease relevance of CHRNG

 

High impact information on CHRNG

  • We then identified germline-inactivating mutations in the embryonal acetylcholine receptor gamma subunit (CHRNG) in families with both lethal and nonlethal MPSs [1].
  • Conventional gel electrophoresis followed by Southern blot analysis indicated no evidence of rearrangement within or near these genes except for a rearrangement in the CHRNG-CHRND locus, which occurred only in a subpopulation of the late recurrence tumor cells of one patient [2].
  • The pattern of segregation of this 30-40 kb band correlated with the segregation of human chromosome 2 within the panel and the presence of a chromosomal translocation in the distal part of the long arm of this t(X;2)(p22;q32.1) chromosome allowing the localization of the gamma subunit gene (CHRNG) to 2q32----qter [3].

References

  1. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Morgan, N.V., Brueton, L.A., Cox, P., Greally, M.T., Tolmie, J., Pasha, S., Aligianis, I.A., van Bokhoven, H., Marton, T., Al-Gazali, L., Morton, J.E., Oley, C., Johnson, C.A., Trembath, R.C., Brunner, H.G., Maher, E.R. Am. J. Hum. Genet. (2006) [Pubmed]
  2. Molecular and cytogenetic analysis of chromosomal arms 2q and 13q in alveolar rhabdomyosarcoma. Barr, F.G., Biegel, J.A., Sellinger, B., Womer, R.B., Emanuel, B.S. Genes Chromosomes Cancer (1991) [Pubmed]
  3. Localization of the acetylcholine receptor gamma subunit gene to human chromosome 2q32----qter. Cohen-Haguenauer, O., Barton, P.J., Buonanno, A., Cong, N.V., Masset, M., de Tand, M.F., Merlie, J., Frézal, J. Cytogenet. Cell Genet. (1989) [Pubmed]
 
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