InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: CRYGD

Summary

InnateDB Protein

IDBP-79694.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

CRYGD

Protein Name

crystallin, gamma D

Synonyms

CACA; CCA3; CCP; cry-g-D; CRYG4; CTRCT4; PCC;

Species

Homo sapiens

Ensembl Protein

ENSP00000264376

InnateDB Gene

IDBG-79692 (CRYGD)

Protein Structure

UniProt Annotation

Function

Crystallins are the dominant structural components of the vertebrate eye lens.

Subcellular Localization

Disease Associations

Cataract 4, multiple types (CTRCT4) [MIM:115700]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT4 includes crystalline aculeiform, congenital cerulean and non-nuclear polymorphic cataracts, among others. Crystalline aculeiform cataract is characterized by fiberglass-like or needle-like crystals projecting in different directions, through or close to the axial region of the lens. Non- nuclear polymorphic cataract is a partial opacity with variable location between the fetal nucleus of the lens and the equator. The fetal nucleus is normal. The opacities are irregular and look similar to a bunch of grapes and may be present simultaneously in different lens layers. Congenital cerulean cataract is characterized by peripheral bluish and white opacifications organized in concentric layers with occasional central lesions arranged radially. The opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens. Involvement is usually bilateral. Visual acuity is only mildly reduced in childhood. In adulthood, the opacifications may progress, making lens extraction necessary. Histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material. Although the lesions may take on various colors, a dull blue is the most common appearance and is responsible for the designation cerulean cataract. {ECO:0000269PubMed:10521291, ECO:0000269PubMed:10915766, ECO:0000269PubMed:12011157, ECO:0000269PubMed:12676897, ECO:0000269PubMed:16943771, ECO:0000269PubMed:17564961, ECO:0000269PubMed:21031598, ECO:0000269PubMed:9927684}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005212	structural constituent of eye lens
GO:0005515	protein binding

Biological Process

GO:0002088	lens development in camera-type eye
GO:0007601	visual perception
GO:0034614	cellular response to reactive oxygen species
GO:0070306	lens fiber cell differentiation