CRYGS - crystallin gamma S Gene
Also Known as CRYG8; CTRCT20
Species: Homo sapiens
About CRYGS
This gene has 3 transcripts (splice variants), 218 orthologues, 14 paralogues and is associated with 4 phenotypes. Ubiquitous expression in spleen (RPKM 1.8), skin (RPKM 1.8) and 25 other tissues.
Summary
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]
CRYGS Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_017541.4 | NP_060011.1 | gamma-crystallin S |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
24183572 | GOA |
CRYGS Protein Structure
Crystall: Beta/Gamma crystallin (7 - 86)
Crystall: Beta/Gamma crystallin (95 - 176)
- 0
- 100
- 178 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
gamma-crystallin S |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cataract 20, Multiple Types |
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| Early-Onset Sutural Cataract |
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| Early-Onset Lamellar Cataract |
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| Cataract |
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| Nuclear Senile Cataract |
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| Mature Cataract |
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| Morgagni Cataract |
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| Eye Accommodation Disease |
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| Deprivation Amblyopia |
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| Presbyopia |
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| Immature Cataract |
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| Senile Cataract |
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| Lens Disease |
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| Axenfeld-Rieger Syndrome, Type 3 |
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| Diabetic Cataract |
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| Galactosemia Ii |
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| Posterior Polar Cataract |
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| Amblyopia |
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| Retinal Perforation |
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| Nance-Horan Syndrome |
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| Persistent Hyperplastic Primary Vitreous |
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| Coloboma Of Optic Nerve |
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| Axenfeld-Rieger Syndrome |
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| Aniridia 1 |
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| Eye Disease |
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| Retinitis Pigmentosa |
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