CRYGD Chromosome 2
Crystallin gamma D
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What This Gene Does
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Beta-gamma crystallins
Locus Type
gene with protein product
Location
2q33.3
Ensembl
ENSG00000118231
Associated Conditions (7)
High myopia
Aculeiform cataract
CRYGD-related disorder
Cataract 4 multiple types
Joubert syndrome 17
Inborn genetic diseases
Developmental cataract
Key Variants
RS150857132
Conflicting classifications of pathogenicity
High myopia, Aculeiform cataract, CRYGD-related disorder
Health Risk
RS202233735
Conflicting classifications of pathogenicity
Cataract 4 multiple types, Aculeiform cataract, Joubert syndrome 17
Health Risk
RS564197072
Conflicting classifications of pathogenicity
Cataract 4 multiple types, Aculeiform cataract, Inborn genetic diseases
Health Risk
RS75156162
Conflicting classifications of pathogenicity
Cataract 4 multiple types, Aculeiform cataract, CRYGD-related disorder
Health Risk
RS1694933681
Likely pathogenic
Health Risk
RS2242074
Likely pathogenic
Health Risk
RS2469111242
Likely pathogenic
Aculeiform cataract, Aculeiform cataract
Health Risk
RS2469111254
Likely pathogenic
Aculeiform cataract, Aculeiform cataract
Health Risk
RS398122948
Likely pathogenic
Cataract 4 multiple types, Aculeiform cataract, Cataract 4 multiple types
Health Risk
RS786205546
Likely pathogenic
CRYGD-related disorder, CRYGD-related disorder
Health Risk
RS864309701
Likely pathogenic
Developmental cataract, Cataract 4 multiple types, Developmental cataract
Health Risk
RS121909595
Pathogenic
Cataract 4 multiple types, Aculeiform cataract, Cataract 4 multiple types
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150857132 | Health Risk | Conflicting classifications of pathogenicity | High myopia, Aculeiform cataract, CRYGD-related disorder |
| RS202233735 | Health Risk | Conflicting classifications of pathogenicity | Cataract 4 multiple types, Aculeiform cataract, Joubert syndrome 17 |
| RS564197072 | Health Risk | Conflicting classifications of pathogenicity | Cataract 4 multiple types, Aculeiform cataract, Inborn genetic diseases |
| RS75156162 | Health Risk | Conflicting classifications of pathogenicity | Cataract 4 multiple types, Aculeiform cataract, CRYGD-related disorder |
| RS1694933681 | Health Risk | Likely pathogenic | — |
| RS2242074 | Health Risk | Likely pathogenic | — |
| RS2469111242 | Health Risk | Likely pathogenic | Aculeiform cataract, Aculeiform cataract |
| RS2469111254 | Health Risk | Likely pathogenic | Aculeiform cataract, Aculeiform cataract |
| RS398122948 | Health Risk | Likely pathogenic | Cataract 4 multiple types, Aculeiform cataract, Cataract 4 multiple types |
| RS786205546 | Health Risk | Likely pathogenic | CRYGD-related disorder, CRYGD-related disorder |
| RS864309701 | Health Risk | Likely pathogenic | Developmental cataract, Cataract 4 multiple types, Developmental cataract |
| RS121909595 | Health Risk | Pathogenic | Cataract 4 multiple types, Aculeiform cataract, Cataract 4 multiple types |
| RS121909596 | Health Risk | Pathogenic | Cataract 4 multiple types, Aculeiform cataract, CRYGD-related disorder |
| RS121909597 | Health Risk | Pathogenic | Cataract 4 multiple types, Aculeiform cataract, Cataract 4 multiple types |
| RS121909598 | Health Risk | Pathogenic | Cataract 4 multiple types, Cataract 4 multiple types |
| RS1337897299 | Health Risk | Pathogenic | Cataract 4 multiple types, Aculeiform cataract, Inborn genetic diseases |
| RS28931605 | Health Risk | Pathogenic | Cataract 4 multiple types, Developmental cataract, Aculeiform cataract |
| RS2105851392 | Health Risk | Pathogenic/Likely pathogenic | Aculeiform cataract, Aculeiform cataract |
| RS764945940 | Health Risk | Pathogenic/Likely pathogenic | Aculeiform cataract, Aculeiform cataract |