Gene: CRYGD

Alternate names for this Gene: CACA|CCA3|CCP|CRYG4|CTRCT4|PCC|cry-g-D

Gene 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2q33.3

Description of this Gene: crystallin gamma D

Type of Gene: protein-coding

Gene: LOC100507443

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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rs1337897299 in CRYGD;LOC100507443 gene and CATARACT, CRYSTALLINE ACULEIFORM PMID 18587492 2008 Crystallin gene mutations in Indian families with inherited pediatric cataract.

PMID 23936409 2013 Structural integrity of the Greek key motif in βγ-crystallins is vital for central eye lens transparency.

PMID 23508780 2013 Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.

rs864309701 in CRYGD;LOC100507443 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.