| Type | Description |
|---|---|
| Definition | crystallin gamma C |
| Date | Results | Publications |
|---|---|---|
| 2019-09-14 11:03:00 | Identification of a novel CRYGC exon 2 mutation in a pedigree affected with congenital cataracts | 31302914 |
| 2018-09-08 12:10:00 | Study identified eight different mutations in CRYGC associated with autosomal dominant congenital nuclear cataracts (ADCC) in a cohort of Chinese family and shows that CRYGC mutations are responsible for 4.1% of ADCC families in the cohort. The results expand the spectrum of CRYGC mutations as well as their associated phenotypes. | 28298635 |
| 2018-05-26 11:04:00 | We examined a cohort of Chinese patients with congenital cataracts and studied the phenotypes and genotypes. Extralenticular abnormalities, such as microcornea and ocular coloboma, can also be found in patients with congenital cataracts. The phenotype of congenital cataracts associated with macular and optic disc coloboma was reported for the first time in this study. | 29386872 |
| 2015-11-21 11:24:00 | the G129C mutation in gammaC-crystallin, which is associated with autosomal dominant congenital nuclear cataract, perturbed the unfolding process by promoting the accumulation of two distinct aggregation-prone intermediates under mild denaturing conditions. | 26165230 |
| 2015-02-14 12:03:00 | Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. | 24281366 |
| Type | IDs |
|---|---|
| Synonymous | CCL, CRYG3, CTRCT2 |
| Gene |
UniProtKB-ID:
CRGC_HUMAN,
A0A0X8GLL6_HUMAN
UniprotKB:
P07315,
A0A0X8GLL6
UniParc:
UPI000013DCBD
EMBL:
K03004,
M19364,
M11972,
BC074955,
KT455014,
AC093698,
M11973,
CH471063,
BC074954,
K03003,
U66582
Ensembl:
ENSG00000285011,
ENSG00000163254
KO:
hsa:1420
|
| Nucleutide sequences |
EMBL-CDS:
AAA52111.1,
AAA52110.1,
AAY24042.1,
AAH74955.1,
AAC50899.1,
EAW70433.1,
AAA52114.1,
AAH74954.1,
AMC33104.1
Ensembl_TRS:
ENST00000646204,
ENST00000282141
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000496418,
ENSP00000282141
RefSeq:
NP_066269.1,
XP_011508964.1
|
| Others |
UniRef100:
UniRef100_P07315
UniRef90:
UniRef90_P07315
UniRef50:
UniRef50_P07315
UniGene:
Hs.72910
CCDS:
CCDS2379.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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