CRYBB1
entrez
1414
canonical
uniprot
P53674
canonical
ensembl
ENSG00000100122
resolver
ensp
ENSP00000497249
resolver
ensp
ENSP00000542183
resolver
ensp
ENSP00000542184
resolver
ensp
ENSP00000542185
resolver
ensp
ENSP00000597923
resolver
ensp
ENSP00000597924
resolver
ensp
ENSP00000616785
resolver
enst
ENST00000647684
resolver
enst
ENST00000872124
resolver
enst
ENST00000872125
resolver
enst
ENST00000872126
resolver
enst
ENST00000927864
resolver
enst
ENST00000927865
resolver
enst
ENST00000946726
resolver
genesymbol
CRYBB1
resolver
hgnc
HGNC:2397
resolver
uniprot_entry
CRBB1_HUMAN
resolver
amino_acid_sequence
MSQAAKASASATVAVNPGPDTKGKGAPPAGTSPSPGTTLAPTTVPITSAKAAELPPGNYRLVVFELENFQGRRAEFSGECSNLADRGFDRVRSIIVSAGPWVAFEQSNFRGEMFILEKGEYPRWNTWSSSYRSDRLMSFRPIKMDAQEHKISLFEGANFKGNTIEIQGDDAPSLWVYGFSDRVGSVKVSSGTWVGYQYPGYRGYQYLLEPGDFRHWNEWGAFQPQMQSLRRLRDKQWHLEGSFPVLATEPPK
uniprot
proteins
disease_involvement
DISEASE: Cataract 17, multiple types (CTRCT17) [MIM:611544]: 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. CTRCT17 includes nuclear and pulverulent cataracts, among others. Nuclear cataracts affect the central nucleus of the eye, 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. Pulverulent cataracts are characterized by a dust-like, 'pulverised' appearance of the opacities which can be found in any part of the lens. {ECO:0000269|PubMed:12360425, ECO:0000269|PubMed:17460281, ECO:0000269|PubMed:23508780, ECO:0000269|PubMed:29386872, ECO:0000269|PubMed:29914532, ECO:0000269|PubMed:33243271}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=CRYBB1 mutations may be a cause of congenital cataract and microcornea syndrome, a disease characterized by the association of congenital cataract and microcornea without any other systemic anomaly or dysmorphism. Clinical findings include a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye, and an inherited cataract, which is most often bilateral posterior polar with opacification in the lens periphery. The cataract progresses to form a total cataract after visual maturity has been achieved, requiring cataract extraction in the first to third decade of life (PubMed:16110300, PubMed:21972112). {ECO:0000305|PubMed:16110300, ECO:0000305|PubMed:21972112}.
uniprot
proteins
function
FUNCTION: Crystallins are the dominant structural components of the vertebrate eye lens.
uniprot
proteins
mass_dalton
28023
uniprot
proteins
post_translational_modification
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.
uniprot
proteins
protein_family
Beta/gamma-crystallin family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
12360425
uniprot
proteins
pubmed
14573871
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15667225
uniprot
proteins
pubmed
16110300
uniprot
proteins
pubmed
17460281
uniprot
proteins
pubmed
21972112
uniprot
proteins
pubmed
23508780
uniprot
proteins
pubmed
29386872
uniprot
proteins
pubmed
29914532
uniprot
proteins
pubmed
33243271
uniprot
proteins
pubmed
8575764
uniprot
proteins
pubmed
8626774
uniprot
proteins
sequence_length
252
uniprot
proteins