CRYGS
entrez
1427
canonical
uniprot
P22914
canonical
ensembl
ENSG00000213139
resolver
ensp
ENSP00000312099
resolver
ensp
ENSP00000376287
resolver
enst
ENST00000307944
resolver
enst
ENST00000392499
resolver
genesymbol
CRYGS
resolver
genesymbol_syn
CRYG8
resolver
hgnc
HGNC:2417
resolver
uniprot
A0A140CTX8
resolver
uniprot
B2RAF8
resolver
uniprot_entry
A0A140CTX8_HUMAN
resolver
uniprot_entry
CRYGS_HUMAN
resolver
uniprot_sec
B2RAF8
resolver
amino_acid_sequence
MSKTGTKITFYEDKNFQGRRYDCDCDCADFHTYLSRCNSIKVEGGTWAVYERPNFAGYMYILPQGEYPEYQRWMGLNDRLSSCRAVHLPSGGQYKIQIFEKGDFSGQMYETTEDCPSIMEQFHMREIHSCKVLEGVWIFYELPNYRGRQYLLDKKEYRKPIDWGAASPAVQSFRRIVE
uniprot
proteins
disease_involvement
DISEASE: Cataract 20, multiple types (CTRCT20) [MIM:116100]: 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. CTRCT20 includes progressive polymorphic anterior, posterior, or peripheral cortical. {ECO:0000269|PubMed:16141006, ECO:0000269|PubMed:18587492, ECO:0000269|PubMed:21866213, ECO:0000269|PubMed:28839118}. 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
21007
uniprot
proteins
protein_family
Beta/gamma-crystallin family
uniprot
proteins
pubmed
10837510
uniprot
proteins
pubmed
11706012
uniprot
proteins
pubmed
1445197
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16141006
uniprot
proteins
pubmed
18587492
uniprot
proteins
pubmed
21866213
uniprot
proteins
pubmed
28839118
uniprot
proteins
pubmed
7733876
uniprot
proteins
pubmed
8999933
uniprot
proteins
sequence_length
178
uniprot
proteins