Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1420
MIM: 123680
HGNC: 2410
Ensembl: ENSG00000163254
Variants:
dbSNP: 1420
ClinVar: 1420
TCGA: ENSG00000163254
COSMIC: CRYGC
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000163254 | ENST00000282141 | P07315 |
| ENSG00000163254 | ENST00000282141 | A0A0X8GLL6 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37184593 | 2023 | The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human γC-Crystallin Causing Congenital Nuclear Cataracts. | 2 |
| 37184593 | 2023 | The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human γC-Crystallin Causing Congenital Nuclear Cataracts. | 2 |
| 33278449 | 2021 | Cataract-causing mutations L45P and Y46D promote γC-crystallin aggregation by disturbing hydrogen bonds network in the second Greek key motif. | 7 |
| 33422942 | 2021 | Cataract-causing mutations L45P and Y46D impair the thermal stability of γC-crystallin. | 3 |
| 33278449 | 2021 | Cataract-causing mutations L45P and Y46D promote γC-crystallin aggregation by disturbing hydrogen bonds network in the second Greek key motif. | 7 |
| 33422942 | 2021 | Cataract-causing mutations L45P and Y46D impair the thermal stability of γC-crystallin. | 3 |
| 32811259 | 2020 | A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred. | 3 |
| 32811259 | 2020 | A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred. | 3 |
| 31302914 | 2019 | [Identification of a novel CRYGC mutation in a pedigree affected with congenital cataracts]. | 2 |
| 31302914 | 2019 | [Identification of a novel CRYGC mutation in a pedigree affected with congenital cataracts]. | 2 |
| 28298635 | 2017 | Novel mutations in CRYGC are associated with congenital cataracts in Chinese families. | 8 |
| 29386872 | 2017 | Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities. | 13 |
| 28298635 | 2017 | Novel mutations in CRYGC are associated with congenital cataracts in Chinese families. | 8 |
| 29386872 | 2017 | Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities. | 13 |
| 26165230 | 2015 | Congenital Cataract-Causing Mutation G129C in γC-Crystallin Promotes the Accumulation of Two Distinct Unfolding Intermediates That Form Highly Toxic Aggregates. | 10 |
Citation
Dessen P
CRYGC (crystallin gamma C)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62111/crygc-(crystallin-gamma-c)
