CRYGS Chromosome 3
Crystallin gamma S
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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. This gene encodes a protein initially considered to be a beta-crystallin but the encoded protein is monomeric and has greater sequence similarity to other gamma-crystallins. This gene encodes the most significant gamma-crystallin in adult eye lens tissue. 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
3q27.3
Ensembl
ENSG00000213139
Associated Conditions (5)
Cataract 20 multiple types
Inborn genetic diseases
See cases
Retinitis pigmentosa
Developmental cataract
Key Variants
RS143507827
Conflicting classifications of pathogenicity
Cataract 20 multiple types, Cataract 20 multiple types
Health Risk
RS144812537
Conflicting classifications of pathogenicity
Cataract 20 multiple types, Inborn genetic diseases, Cataract 20 multiple types
Health Risk
RS147971015
Conflicting classifications of pathogenicity
Cataract 20 multiple types, Inborn genetic diseases, Cataract 20 multiple types
Health Risk
RS1184398243
Likely pathogenic
Cataract 20 multiple types, Cataract 20 multiple types
Health Risk
RS2108743641
Likely pathogenic
See cases, See cases
Health Risk
RS2474501996
Likely pathogenic
Health Risk
RS104893736
Pathogenic
Cataract 20 multiple types, Retinitis pigmentosa, Cataract 20 multiple types
Health Risk
RS1114167312
Pathogenic
Developmental cataract, Developmental cataract
Health Risk
RS1578956689
Pathogenic
Cataract 20 multiple types, Cataract 20 multiple types
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143507827 | Health Risk | Conflicting classifications of pathogenicity | Cataract 20 multiple types, Cataract 20 multiple types |
| RS144812537 | Health Risk | Conflicting classifications of pathogenicity | Cataract 20 multiple types, Inborn genetic diseases, Cataract 20 multiple types |
| RS147971015 | Health Risk | Conflicting classifications of pathogenicity | Cataract 20 multiple types, Inborn genetic diseases, Cataract 20 multiple types |
| RS1184398243 | Health Risk | Likely pathogenic | Cataract 20 multiple types, Cataract 20 multiple types |
| RS2108743641 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2474501996 | Health Risk | Likely pathogenic | — |
| RS104893736 | Health Risk | Pathogenic | Cataract 20 multiple types, Retinitis pigmentosa, Cataract 20 multiple types |
| RS1114167312 | Health Risk | Pathogenic | Developmental cataract, Developmental cataract |
| RS1578956689 | Health Risk | Pathogenic | Cataract 20 multiple types, Cataract 20 multiple types |