beta-crystallin B1; beta-B1 crystallin (CRYBB1)

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 truncated forms, leading to impaired oligomerization & protein insolubilization
• homodimer/heterodimer, or complexes of higher order
• the structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms

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 CRYBB1 are the cause of cataract congenital nuclear autosomal recessive type 3
• defects in CRYBB1 are a cause of cataract-microcornea syndrome

More general terms

• beta crystallin B
• phosphoprotein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1414
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1414
• OMIM: https://mirror.omim.org/entry/116150
• OMIM: https://mirror.omim.org/entry/600929
• OMIM: https://mirror.omim.org/entry/611544
• UniProt: http://www.uniprot.org/uniprot/P53674.html