Gene Review:
CRYAA - crystallin, alpha A
Homo sapiens
Synonyms:
Alpha-crystallin A chain, CRYA1, CTRCT9, HSPB4, Heat shock protein beta-4, ...
- Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Litt, M., Kramer, P., LaMorticella, D.M., Murphey, W., Lovrien, E.W., Weleber, R.G. Hum. Mol. Genet. (1998)
- PvuII and XhoI/EcoRV polymorphisms adjacent to the alpha A-crystallin (CRYA1) gene on human chromosome 21. Petersen, M.B., Jaworski, C.J., Lewis, J.G., Antonarakis, S.E. Nucleic Acids Res. (1990)
- Amino acid sequence versus morphological data and the interordinal relationships of mammals. Wyss, A.R., Novacek, M.J., McKenna, M.C. Mol. Biol. Evol. (1987)
- A nonsense mutation (W9X) in CRYAA causes autosomal recessive cataract in an inbred Jewish Persian family. Pras, E., Frydman, M., Levy-Nissenbaum, E., Bakhan, T., Raz, J., Assia, E.I., Goldman, B., Pras, E. Invest. Ophthalmol. Vis. Sci. (2000)
- A high proportion of chromosome 21 promoter polymorphisms influence transcriptional activity. Buckland, P.R., Coleman, S.L., Hoogendoorn, B., Guy, C., Smith, S.K., O'Donovan, M.C. Gene Expr. (2004)
- Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q. Mackay, D.S., Andley, U.P., Shiels, A. Eur. J. Hum. Genet. (2003)
- Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family. Santhiya, S.T., Soker, T., Klopp, N., Illig, T., Prakash, M.V., Selvaraj, B., Gopinath, P.M., Graw, J. Mol. Vis. (2006)
- Synteny mapping of the genes for 21 steroid hydroxylase, alpha A crystallin, and class I bovine leukocyte antigen in cattle. Skow, L.C., Womack, J.E., Petresh, J.M., Miller, W.L. DNA (1988)
- A novel fan-shaped cataract-microcornea syndrome caused by a mutation of CRYAA in an Indian family. Vanita, V., Singh, J.R., Hejtmancik, J.F., Nuernberg, P., Hennies, H.C., Singh, D., Sperling, K. Mol. Vis. (2006)
- Confirmation of assignment of the human alpha 1-crystallin gene (CRYA1) to chromosome 21 with regional localization to q22.3. Hawkins, J.W., Van Keuren, M.L., Piatigorsky, J., Law, M.L., Patterson, D., Kao, F.T. Hum. Genet. (1987)