CRYBA1
entrez
1411
canonical
uniprot
P05813
canonical
ensembl
ENSG00000108255
resolver
ensp
ENSP00000225387
resolver
genesymbol
CRYBA1
resolver
genesymbol_syn
CRYB1
resolver
hgnc
HGNC:2394
resolver
uniprot
Q13633
resolver
uniprot
Q14CM9
resolver
uniprot_entry
CRBA1_HUMAN
resolver
uniprot_sec
Q13633
resolver
uniprot_sec
Q14CM9
resolver
amino_acid_sequence
METQAEQQELETLPTTKMAQTNPTPGSLGPWKITIYDQENFQGKRMEFTSSCPNVSERSFDNVRSLKVESGAWIGYEHTSFCGQQFILERGEYPRWDAWSGSNAYHIERLMSFRPICSANHKESKMTIFEKENFIGRQWEISDDYPSLQAMGWFNNEVGSMKIQSGAWVCYQYPGYRGYQYILECDHHGGDYKHWREWGSHAQTSQIQSIRRIQQ
uniprot
proteins
disease_involvement
DISEASE: Cataract 10, multiple types (CTRCT10) [MIM:600881]: 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. CTRCT10 includes congenital zonular with sutural opacities, among others. This is a form of zonular cataract with an erect Y-shaped anterior and an inverted Y-shaped posterior sutural opacities. 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:15016766, ECO:0000269|PubMed:21866213, ECO:0000269|PubMed:31523120, ECO:0000269|PubMed:9788845}. 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
25150
uniprot
proteins
post_translational_modification
PTM: Specific cleavages in the N-terminal arm occur during lens maturation and give rise to several truncated forms. Cleavages do not seem to have adverse effects on solubility. {ECO:0000269|PubMed:15576560}.; PTM: S-methylation and glutathionylation occur in normal young lenses and do not seem to be detrimental. {ECO:0000269|PubMed:15576560}.
uniprot
proteins
protein_family
Beta/gamma-crystallin family
uniprot
proteins
pubmed
15016766
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15576560
uniprot
proteins
pubmed
21866213
uniprot
proteins
pubmed
28083894
uniprot
proteins
pubmed
31523120
uniprot
proteins
pubmed
3745196
uniprot
proteins
pubmed
8999933
uniprot
proteins
pubmed
9788845
uniprot
proteins
sequence_length
215
uniprot
proteins