CRYBB3
entrez
1417
canonical
uniprot
P26998
canonical
ensembl
ENSG00000100053
resolver
ensp
ENSP00000215855
resolver
enst
ENST00000215855
resolver
genesymbol
CRYBB3
resolver
genesymbol_syn
CRYB3
resolver
hgnc
HGNC:2400
resolver
uniprot
Q3B7S9
resolver
uniprot
Q3T1B7
resolver
uniprot
Q6ISK6
resolver
uniprot
Q92965
resolver
uniprot
Q9UH09
resolver
uniprot_entry
CRBB3_HUMAN
resolver
uniprot_sec
Q3B7S9
resolver
uniprot_sec
Q3T1B7
resolver
uniprot_sec
Q6ISK6
resolver
uniprot_sec
Q92965
resolver
uniprot_sec
Q9UH09
resolver
amino_acid_sequence
MAEQHGAPEQAAAGKSHGDLGGSYKVILYELENFQGKRCELSAECPSLTDSLLEKVGSIQVESGPWLAFESRAFRGEQFVLEKGDYPRWDAWSNSRDSDSLLSLRPLNIDSPHHKLHLFENPAFSGRKMEIVDDDVPSLWAHGFQDRVASVRAINGTWVGYEFPGYRGRQYVFERGEYRHWNEWDASQPQLQSVRRIRDQKWHKRGRFPSS
uniprot
proteins
disease_involvement
DISEASE: Cataract 22, multiple types (CTRCT22) [MIM:609741]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT22 includes nuclear cataract among others. Nuclear cataracts affect the central nucleus of the eye, and are often not highly visually significant. The density of the opacities varies greatly from fine dots to a dense, white and chalk-like, central cataract. The condition is usually bilateral. Nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders. {ECO:0000269|PubMed:15914629, ECO:0000269|PubMed:19182255, ECO:0000269|PubMed:23508780}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Crystallins are the dominant structural components of the vertebrate eye lens.
uniprot
proteins
mass_dalton
24252
uniprot
proteins
protein_family
Beta/gamma-crystallin family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15914629
uniprot
proteins
pubmed
19182255
uniprot
proteins
pubmed
23508780
uniprot
proteins
pubmed
2499686
uniprot
proteins
pubmed
8999933
uniprot
proteins
sequence_length
211
uniprot
proteins