CRYBA4
entrez
1413
canonical
uniprot
P53673
canonical
ensembl
ENSG00000196431
resolver
ensp
ENSP00000346805
resolver
enst
ENST00000354760
resolver
genesymbol
CRYBA4
resolver
hgnc
HGNC:2396
resolver
uniprot
A0A097PIJ6
resolver
uniprot
Q4VB22
resolver
uniprot
Q6ICE4
resolver
uniprot_entry
A0A097PIJ6_HUMAN
resolver
uniprot_entry
CRBA4_HUMAN
resolver
uniprot_sec
Q4VB22
resolver
uniprot_sec
Q6ICE4
resolver
amino_acid_sequence
MTLQCTKSAGPWKMVVWDEDGFQGRRHEFTAECPSVLELGFETVRSLKVLSGAWVGFEHAGFQGQQYILERGEYPSWDAWGGNTAYPAERLTSFRPAACANHRDSRLTIFEQENFLGKKGELSDDYPSLQAMGWEGNEVGSFHVHSGAWVCSQFPGYRGFQYVLECDHHSGDYKHFREWGSHAPTFQVQSIRRIQQ
uniprot
proteins
disease_involvement
DISEASE: Cataract 23, multiple types (CTRCT23) [MIM:610425]: 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. CTRCT23 is a zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. {ECO:0000269|PubMed:16960806, ECO:0000269|PubMed:20577656}. 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
22374
uniprot
proteins
protein_family
Beta/gamma-crystallin family
uniprot
proteins
pubmed
10591208
uniprot
proteins
pubmed
15461802
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16960806
uniprot
proteins
pubmed
20577656
uniprot
proteins
pubmed
7504514
uniprot
proteins
pubmed
8999933
uniprot
proteins
sequence_length
196
uniprot
proteins