CRYGD - crystallin gamma D Gene
Also Known as CCP; PCC; CACA; CCA3; CRYG4; CTRCT4; cry-g-D
Species: Homo sapiens
About CRYGD
This gene has 1 transcript (splice variant), 1 gene allele, 68 orthologues, 14 paralogues and is associated with 9 phenotypes. Biased expression in ovary (RPKM 6.8) and bone marrow (RPKM 0.8).
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. 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]
CRYGD Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_006891.4 | NP_008822.2 | gamma-crystallin D |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
8943244 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cellular response to reactive oxygen species |
IDA
IDA: Inferred from direct assay
|
8943244 | GOA |
| involved in visual perception |
IMP
IMP: Inferred from mutant phenotype
|
9927684 | GOA |
CRYGD Protein Structure
Crystall: Beta/Gamma crystallin (3 - 82)
Crystall: Beta/Gamma crystallin (89 - 170)
- 0
- 100
- 174 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
gamma-crystallin D |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cataract 4, Multiple Types |
|
|
| Cataract 29 |
|
|
| Cataract 7 |
|
|
| Cataract 30, Multiple Types |
|
|
| Cataract Microcornea Syndrome |
|
|
| Early-Onset Lamellar Cataract |
|
|
| Early-Onset Nuclear Cataract |
|
|
| Cataract |
|
|
| Nuclear Senile Cataract |
|
|
| Mature Cataract |
|
|
| Carnitine-Acylcarnitine Translocase Deficiency |
|
|
| Senile Cataract |
|
|
| Nance-Horan Syndrome |
|
|
| Babesiosis |
|
|
| Leukocoria |
|
|
| Presbyopia |
|
|
| Deprivation Amblyopia |
|
|
| Amblyopia |
|
|
| Lens Disease |
|
|
| Aniridia 1 |
|
|
| Anterior Segment Dysgenesis |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | CRYGD | RGD | RGD:2422 |
| Mus musculus | CRYGD | MGD | MGI:88524 |
| Bos taurus | CRYGD | VGNC | VGNC:55342 |
| Others | CRYGD | NCBI |