Crystallins are the dominant structural components of the vertebrate eye lens.
Involvement in disease
Defects in CRYBA1 are the cause of cataract congenital zonular with sutural opacities (CCZS) [MIM:600881]. A form of zonular cataract. Zonular or lamellar cataracts are concentric opacities, broad or narrow, usually consisting of powdery white dots affecting one lamella or zonule of an otherwise clear lens.
Belongs to the beta/gamma-crystallin family. Contains 4 beta/gamma crystallin 'Greek key' domains.
Has a two-domain beta-structure, folded into four very similar Greek key motifs.
Specific cleavages in the N-terminal arm occur during lens maturation and give rise to several truncated forms. Cleavages do not seem to have adverse effects on solubility. S-methylation and glutathionylation occur in normal young lenses and do not seem to be detrimental. Isoform A1 initiator methionine is removed. The new N-terminal amino acid is then N-acetylated.