beta crystallin A1/3

Function

• crystallins are the dominant structural components of the vertebrate eye lens
• specific cleavages in the N-terminal arm occur during lens maturation & give rise to several truncated forms
• cleavages do not seem to have adverse effects on solubility
• S-methylation & glutathionylation occur in normal young lenses & do not seem to be detrimental
• isoform A1 initiator methionine is removed
  • the new N- terminal amino acid is then N-acetylated
• 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

Alternative initiation

named isoforms=2

Pathology

• mutations associated with
  • congenital zonular cataract with sutural opacities (CCZS)

More general terms

• beta crystallin A

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1411
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1411
• OMIM: https://mirror.omim.org/entry/123610
• OMIM: https://mirror.omim.org/entry/600881
• UniProt: http://www.uniprot.org/uniprot/P05813.html