功能： disease:Defects in CRYBB1 are the cause of autosomal recessive congenital nuclear cataract type 3 (CATCN3) [MIM:611544]. CATCN3 is a form of non-syndromic congenital cataract. Non-syndromic congenital cataracts vary markedly in severity and morphology, affecting the nuclear, cortical, polar, or subcapsular parts of the lens or, in severe cases, the entire lens, with a variety of types of opacity. They are one of the major causes of vision loss in children worldwide and are responsible for approximately one third of blindness in infants. Congenital cataracts can lead to permanent blindness by interfering with the sharp focus of light on the retina during critical developmental intervals.,domain:Has a two-domain beta-structure, folded into four very similar Greek key motifs.,function:Crystallins are the dominant structural components of the vertebrate eye lens.,mass spectrometry: PubMed:8626774,PTM:Specific cleavages in the N-terminal arm occur during lens maturation and give rise to truncated forms, leading to impaired oligomerization and protein insolubilization.,similarity:Belongs to the beta/gamma-crystallin family.,similarity:Contains 4 beta/gamma crystallin 'Greek key' domains.,subunit:Homo/heterodimer, or complexes of higher order. The structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms.,
功能： disease:Defects in CRYBB1 are the cause of autosomal recessive congenital nuclear cataract type 3 (CATCN3) [MIM:611544]. CATCN3 is a form of non-syndromic congenital cataract. Non-syndromic congenital cataracts vary markedly in severity and morphology, affecting the nuclear, cortical, polar, or subcapsular parts of the lens or, in severe cases, the entire lens, with a variety of types of opacity. They are one of the major causes of vision loss in children worldwide and are responsible for approximately one third of blindness in infants. Congenital cataracts can lead to permanent blindness by interfering with the sharp focus of light on the retina during critical developmental intervals.,domain:Has a two-domain beta-structure, folded into four very similar Greek key motifs.,function:Crystallins are the dominant structural components of the vertebrate eye lens.,mass spectrometry: PubMed:8626774,PTM:Specific cleavages in the N-terminal arm occur during lens maturation and give rise to truncated forms, leading to impaired oligomerization and protein insolubilization.,similarity:Belongs to the beta/gamma-crystallin family.,similarity:Contains 4 beta/gamma crystallin 'Greek key' domains.,subunit:Homo/heterodimer, or complexes of higher order. The structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms.,
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