CRYGD
entrez
1421
canonical
uniprot
P07320
canonical
ensembl
ENSG00000118231
resolver
ensembl
ENSG00000285434
resolver
ensp
ENSP00000264376
resolver
ensp
ENSP00000496652
resolver
enst
ENST00000264376
resolver
enst
ENST00000644920
resolver
genesymbol
CRYGD
resolver
genesymbol_syn
CRYG4
resolver
hgnc
HGNC:2411
resolver
uniprot
A0A140CTX7
resolver
uniprot
Q17RF7
resolver
uniprot
Q53R51
resolver
uniprot
Q99681
resolver
uniprot_entry
A0A140CTX7_HUMAN
resolver
uniprot_entry
CRGD_HUMAN
resolver
uniprot_sec
Q17RF7
resolver
uniprot_sec
Q53R51
resolver
uniprot_sec
Q99681
resolver
amino_acid_sequence
MGKITLYEDRGFQGRHYECSSDHPNLQPYLSRCNSARVDSGCWMLYEQPNYSGLQYFLRRGDYADHQQWMGLSDSVRSCRLIPHSGSHRIRLYEREDYRGQMIEFTEDCSCLQDRFRFNEIHSLNVLEGSWVLYELSNYRGRQYLLMPGDYRRYQDWGATNARVGSLRRVIDFS
uniprot
proteins
disease_involvement
DISEASE: Cataract 4, multiple types (CTRCT4) [MIM:115700]: 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. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non-nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. {ECO:0000269|PubMed:10521291, ECO:0000269|PubMed:10688888, ECO:0000269|PubMed:10915766, ECO:0000269|PubMed:11371638, ECO:0000269|PubMed:12011157, ECO:0000269|PubMed:12676897, ECO:0000269|PubMed:15709761, ECO:0000269|PubMed:16943771, ECO:0000269|PubMed:17564961, ECO:0000269|PubMed:18587492, ECO:0000269|PubMed:19390652, ECO:0000269|PubMed:21031598, ECO:0000269|PubMed:21866213, ECO:0000269|PubMed:29914532, ECO:0000269|PubMed:31523120, ECO:0000269|PubMed:33243271, ECO:0000269|PubMed:9927684}. 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
20738
uniprot
proteins
mutagenesis
MUTAGEN 24..25; /note="PN->TK: No effect on solubility."; MUTAGEN 24; /note="P->TP: No effect on solubility."; /evidence="ECO:0000269|PubMed:15709761"; MUTAGEN 24; /note="P->V: Slightly reduces solubility."; /evidence="ECO:0000269|PubMed:15709761
uniprot
proteins
protein_family
Beta/gamma-crystallin family
uniprot
proteins
pubmed
10521291
uniprot
proteins
pubmed
10688888
uniprot
proteins
pubmed
10915766
uniprot
proteins
pubmed
11371638
uniprot
proteins
pubmed
12011157
uniprot
proteins
pubmed
12507494
uniprot
proteins
pubmed
12676897
uniprot
proteins
pubmed
12729747
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15709761
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16943771
uniprot
proteins
pubmed
17564961
uniprot
proteins
pubmed
18587492
uniprot
proteins
pubmed
19390652
uniprot
proteins
pubmed
21031598
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21866213
uniprot
proteins
pubmed
29914532
uniprot
proteins
pubmed
31523120
uniprot
proteins
pubmed
33243271
uniprot
proteins
pubmed
4033658
uniprot
proteins
pubmed
8943244
uniprot
proteins
pubmed
8999933
uniprot
proteins
pubmed
9927684
uniprot
proteins
sequence_length
174
uniprot
proteins