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Gene Review

CRYAA  -  crystallin, alpha A

Homo sapiens

Synonyms: Alpha-crystallin A chain, CRYA1, CTRCT9, HSPB4, Heat shock protein beta-4, ...
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High impact information on CRYAA


Biological context of CRYAA

  • We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the alpha-crystallin gene CRYAA [1].
  • Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA [1].
  • Haplotype analysis indicated that the disease gene lay in the approximately 2.7 Mb physical interval between D21S1912 and D21S1260 flanking CRYAA on 21q22 [6].
  • Transfection studies of lens epithelial cells revealed that, unlike wild-type CRYAA, the R49C mutant protein was abnormally localized to the nucleus and failed to protect from staurosporine-induced apoptotic cell death [6].
  • Sequencing of the exons of the CRYAA gene identified a sequence variation in exon 2 (292 G->A) with a substitution of Gly to Arg at position 98 [7].

Anatomical context of CRYAA


Associations of CRYAA with chemical compounds

  • 3. Sequence analysis identified a C --> T transition in exon 1 of CRYAA from affected individuals that was predicted to result in the nonconservative substitution of cysteine for arginine at codon 49 (R49C) [6].
  • 3. Direct sequencing of the candidate gene CRYAA revealed a heterozygous C>T transition resulting in the substitution of the highly conserved arginine at position 116 by cysteine (R116C) [9].

Other interactions of CRYAA

  • A functional candidate gene approach was employed for PCR screening and sequencing of the exons and their flanking regions of CRYGC, CRYGD, and CRYAA genes [7].
  • The alpha-crystallin gene family consists of alpha 1-crystallin (CRYA1) and alpha 2-crystallin (CRYA2) genes (previously designated alpha A- and alpha B-crystallin, respectively), which show extensive sequence homology [10].


  1. 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) [Pubmed]
  2. 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) [Pubmed]
  3. 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) [Pubmed]
  4. 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) [Pubmed]
  5. 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) [Pubmed]
  6. 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) [Pubmed]
  7. 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) [Pubmed]
  8. 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) [Pubmed]
  9. 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) [Pubmed]
  10. 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) [Pubmed]
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