CRYGC
entrez
1420
canonical
uniprot
P07315
canonical
ensembl
ENSG00000163254
resolver
ensembl
ENSG00000285011
resolver
ensp
ENSP00000282141
resolver
ensp
ENSP00000496418
resolver
enst
ENST00000282141
resolver
enst
ENST00000646204
resolver
genesymbol
CRYGC
resolver
genesymbol_syn
CRYG3
resolver
hgnc
HGNC:2410
resolver
uniprot
A0A0X8GLL6
resolver
uniprot
Q53R50
resolver
uniprot_entry
A0A0X8GLL6_HUMAN
resolver
uniprot_entry
CRGC_HUMAN
resolver
uniprot_sec
Q53R50
resolver
amino_acid_sequence
MGKITFYEDRAFQGRSYETTTDCPNLQPYFSRCNSIRVESGCWMLYERPNYQGQQYLLRRGEYPDYQQWMGLSDSIRSCCLIPQTVSHRLRLYEREDHKGLMMELSEDCPSIQDRFHLSEIRSLHVLEGCWVLYELPNYRGRQYLLRPQEYRRCQDWGAMDAKAGSLRRVVDLY
uniprot
proteins
disease_involvement
DISEASE: Cataract 2, multiple types (CTRCT2) [MIM:604307]: 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. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. {ECO:0000269|PubMed:10521291, ECO:0000269|PubMed:10914683, ECO:0000269|PubMed:12011157, ECO:0000269|PubMed:12601044, ECO:0000269|PubMed:18587492, ECO:0000269|PubMed:22052681, ECO:0000269|PubMed:22876111, 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.
uniprot
proteins
function
FUNCTION: Crystallins are the dominant structural components of the vertebrate eye lens.
uniprot
proteins
mass_dalton
20879
uniprot
proteins
protein_family
Beta/gamma-crystallin family
uniprot
proteins
pubmed
10521291
uniprot
proteins
pubmed
10914683
uniprot
proteins
pubmed
12011157
uniprot
proteins
pubmed
12507494
uniprot
proteins
pubmed
12601044
uniprot
proteins
pubmed
12876325
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
18587492
uniprot
proteins
pubmed
21423869
uniprot
proteins
pubmed
22052681
uniprot
proteins
pubmed
22876111
uniprot
proteins
pubmed
2777080
uniprot
proteins
pubmed
29386872
uniprot
proteins
pubmed
29914532
uniprot
proteins
pubmed
33243271
uniprot
proteins
pubmed
4033658
uniprot
proteins
pubmed
4065573
uniprot
proteins
pubmed
8943244
uniprot
proteins
pubmed
8999933
uniprot
proteins
sequence_length
174
uniprot
proteins