beta-crystallin A4; beta-A4 crystallin (CRYBA4)

Function

• crystallins are the dominant structural components of the vertebrate eye lens
• homodimer/heterodimer, or complexes of higher order
• the structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms (putative)

Structure

• has a two-domain beta-structure, folded into four very similar greek key motifs
• belongs to the beta/gamma-crystallin family
• contains 4 beta/gamma crystallin greek key domains

Pathology

• defects in CRYBA4 are the cause of cataract zonular type 2
• defects in CRYBA4 are a cause of microphthalmia isolated with cataract type 4

More general terms

• beta crystallin A
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1413
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1413
• OMIM: https://mirror.omim.org/entry/123631
• OMIM: https://mirror.omim.org/entry/610425
• OMIM: https://mirror.omim.org/entry/610426
• UniProt: http://www.uniprot.org/uniprot/P53673.html