Gene: LOC100507443
Alternate names for this Gene:
Gene Summary:
Gene is located in Chromosome:
Location in Chromosome :
Description of this Gene:
Type of Gene:
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
rs121909595 in
LOC100507443;CRYGD gene and
CATARACT 4, MULTIPLE TYPES
PMID 21031598 2011 A novel CRYGD mutation (p.Trp43Arg) causing autosomal dominant congenital cataract in a Chinese family.
PMID 10915766 2000 Link between a novel human gammaD-crystallin allele and a unique cataract phenotype explained by protein crystallography.
PMID 9927684 1999 Progressive juvenile-onset punctate cataracts caused by mutation of the gammaD-crystallin gene.
PMID 15709761 2005 Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.
PMID 12011157 2002 Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.
PMID 17564961 2007 Conversion and compensatory evolution of the gamma-crystallin genes and identification of a cataractogenic mutation that reverses the sequence of the human CRYGD gene to an ancestral state.
PMID 16943771 2006 Two affected siblings with nuclear cataract associated with a novel missense mutation in the CRYGD gene.
PMID 12676897 2003 Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.
PMID 10521291 1999 The gamma-crystallins and human cataracts: a puzzle made clearer.
PMID 10688888 2000 Molecular basis of a progressive juvenile-onset hereditary cataract.
PMID 11371638 2001 Crystal cataracts: human genetic cataract caused by protein crystallization.
rs121909595 in
LOC100507443;CRYGD gene and
CATARACT, CRYSTALLINE ACULEIFORM
PMID 10688888 2000 Molecular basis of a progressive juvenile-onset hereditary cataract.
PMID 16446699 2006 A missense mutation in the gammaD-crystallin gene CRYGD associated with autosomal dominant congenital cataract in a Chinese family.
PMID 19668596 2009 A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.
PMID 28450710 2017 Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families.
PMID 19382745 2009 The cataract-associated R14C mutant of human gamma D-crystallin shows a variety of intermolecular disulfide cross-links: a Raman spectroscopic study.
PMID 10521291 1999 The gamma-crystallins and human cataracts: a puzzle made clearer.
rs28931605 in
LOC100507443;CRYGD gene and
Congenital cataract
PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.