CRYGA

CRYGA
Available structures PDB Ortholog search:PDBeRCSB List of PDB id codes 1LER
Identifiers
Aliases	CRYGA,CRY-g-A, CRYG1, CRYG5, crystallin gamma A
External IDs	OMIM:123660;MGI:88521;HomoloGene:129704;GeneCards:CRYGA;OMA:CRYGA - orthologs
Gene location (Human) Chr. Chromosome 2 (human) Band 2q33.3 Start 208,160,740bp End 208,163,589bp
Gene location (Mouse) Chr. Chromosome 1 (mouse) Band 1 C2|1 32.84 cM Start 65,139,548bp End 65,142,532bp
RNA expressionpattern Bgee Human Mouse(ortholog) Top expressed in testicle Brodmann area 9 prefrontal cortex nucleus accumbens anterior cingulate cortex right frontal lobe primary visual cortex putamen superior frontal gyrus amygdala Top expressed in lens blastocyst embryo right kidney human kidney striatum of neuraxis hypothalamus hippocampus proper primary visual cortex dentate gyrus of hippocampal formation granule cell More reference expression data BioGPS More reference expression data
Gene ontology Molecular function structural constituent of eye lens Cellular component cellular component Biological process eye development visual perception lens development in camera-type eye Sources:Amigo/QuickGO
Orthologs Species Human Mouse Entrez 1418 12964 Ensembl ENSG00000168582 ENSMUSG00000044429 UniProt P11844 P04345 RefSeq (mRNA) NM_014617 NM_007774 RefSeq (protein) NP_055432 NP_031800 Location (UCSC) Chr 2: 208.16 – 208.16 Mb Chr 1: 65.14 – 65.14 Mb PubMedsearch
Wikidata
View/Edit Human View/Edit Mouse

Gamma-crystallin Ais aproteinthat in humans is encoded by theCRYGAgene.

Crystallinsare separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrateeye lensand maintains the transparency andrefractive indexof the lens. Since lens central fiber cells lose theirnucleiduring 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 connectingpeptidesand terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and threepseudogenes(gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as agene cluster.Whether due to aging ormutationsin specific genes, gamma-crystallins have been involved incataractformation.

External links

• HumanCRYGAgenome location andCRYGAgene details page in theUCSC Genome Browser.

Further reading

• Graw J (1998). "The crystallins: genes, proteins and diseases".Biol. Chem.378(11): 1331–48.doi:10.1515/bchm.1997.378.11.1299.PMID9426193.
• Slingsby C, Clout NJ (2000)."Structure of the crystallins".Eye.13 ( Pt 3b) (3): 395–402.doi:10.1038/eye.1999.113.PMID10627816.
• Brakenhoff RH, Aarts HJ, Reek FH, et al. (1991). "Human gamma-crystallin genes. A gene family on its way to extinction".J. Mol. Biol.216(3): 519–32.doi:10.1016/0022-2836(90)90380-5.PMID2258929.
• den Dunnen JT, Jongbloed RJ, Geurts van Kessel AH, Schoenmakers JG (1985). "Human lens gamma-crystallin sequences are located in the p12-qter region of chromosome 2".Hum. Genet.70(3): 217–21.doi:10.1007/bf00273445.PMID2991114.S2CID23745896.
• Shiloh Y, Donlon T, Bruns G, et al. (1986). "Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36".Hum. Genet.73(1): 17–9.doi:10.1007/BF00292656.PMID3011643.S2CID27997711.
• Meakin SO, Du RP, Tsui LC, Breitman ML (1987)."Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family".Mol. Cell. Biol.7(8): 2671–9.doi:10.1128/mcb.7.8.2671.PMC367883.PMID3670288.
• Bonaldo MF, Lennon G, Soares MB (1997)."Normalization and subtraction: two approaches to facilitate gene discovery".Genome Res.6(9): 791–806.doi:10.1101/gr.6.9.791.PMID8889548.
• Santhiya ST, Shyam Manohar M, Rawlley D, et al. (2002)."Novel mutations in the γ-crystallin genes cause autosomal dominant congenital cataracts".J. Med. Genet.39(5): 352–8.doi:10.1136/jmg.39.5.352.PMC1735119.PMID12011157.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003)."Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences".Proc. Natl. Acad. Sci. U.S.A.99(26): 16899–903.Bibcode:2002PNAS...9916899M.doi:10.1073/pnas.242603899.PMC139241.PMID12477932.
• Salim A, Zaidi ZH (2003). "Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins".Biochem. Biophys. Res. Commun.300(3): 624–30.doi:10.1016/S0006-291X(02)02895-4.PMID12507494.