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Homo sapiens crystallin, gamma D (CRYGD), mRNA.


RefSeq Accession Definition Services Price Order
NM_006891 Homo sapiens crystallin, gamma D (CRYGD), mRNA. ORF Sequence $159.00
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RefSeq Version NM_006891.3, 171906614
Length 724 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens crystallin, gamma D (CRYGD), mRNA.
Product gamma-crystallin D
Comment

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].

RefSeq NP_008822.2
CDS 117..641
Misc Feature(1)123..362
Misc Feature(2)123..362
Misc Feature(3)252..254
Misc Feature(4)366..377
Misc Feature(5)381..626
Misc Feature(6)447..449
Exon (1)126..368
Gene:CRYGD
Gene Synonym:CACA; CCA3; CCP; cry-g-D; CRYG4
Exon (2)369..707
Gene:CRYGD
Gene Synonym:CACA; CCA3; CCP; cry-g-D; CRYG4
Translation MGKITLYEDRGFQGRHYECSSDHPNLQPYLSRCNSARVDSGCWMLYEQPNYSGLQYFLRR GDYADHQQWMGLSDSVRSCRLIPHSGSHRIRLYEREDYRGQMIEFTEDCSCLQDRFRFNE IHSLNVLEGSWVLYELSNYRGRQYLLMPGDYRRYQDWGATNARVGSLRRVIDFS
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Position Chain Variation Link
complement(77)-dbSNP:
complement(77)-g, adbSNP:113618781
complement(87)-t, gdbSNP:181890669
complement(159)-dbSNP:
complement(159)-t, cdbSNP:121909595
complement(167)-g, adbSNP:2242074
complement(179)-g, adbSNP:150961505
complement(186)-t, c, adbSNP:28931605
complement(223)-g, adbSNP:200234608
complement(224)-t, cdbSNP:200388674
complement(225)-c, adbSNP:121909597
complement(238)-c, adbSNP:148817281
complement(246)-t, cdbSNP:140206746
complement(266)-t, gdbSNP:146108791
complement(284)-g, cdbSNP:202233735
complement(292)-g, adbSNP:121909596
complement(297)-c, adbSNP:150857132
complement(305)-g, adbSNP:200911604
complement(356)-g, adbSNP:201111017
complement(380)-dbSNP:
complement(380)-g, cdbSNP:75156162
complement(394)-t, cdbSNP:138939316
complement(401)-t, cdbSNP:2305430
complement(492)-t, cdbSNP:150318966
complement(506)-g, adbSNP:140234939
complement(526)-g, cdbSNP:143171931
complement(535)-t, cdbSNP:144372987
complement(586)-g, adbSNP:121909598
complement(589)-g, cdbSNP:148554364
complement(653)-g, adbSNP:2305429
complement(654)-t, cdbSNP:137852882
complement(705)-c, adbSNP:183496209
Gene SymbolCRYGD
Gene SynonymCACA; CCA3; CCP; cry-g-D; CRYG4
Chromosome2
Locus Map2q33.3
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_006891 Homo sapiens crystallin, gamma D (CRYGD), mRNA. Full Length $209.96
ORF Sequence $159.00
Title The human W42R gammaD-crystallin mutant structure provides a link between congenital and age-related cataracts .
Author Ji,F., Jung,J., Koharudin,L.M. and Gronenborn,A.M.
Journal J. Biol. Chem. 288 (1), 99-109 (2013)
Title Structural and sequence analysis of the human gammaD-crystallin amyloid fibril core using 2D IR spectroscopy, segmental 13C labeling, and mass spectrometry .
Author Moran,S.D., Decatur,S.M. and Zanni,M.T.
Journal J. Am. Chem. Soc. 134 (44), 18410-18416 (2012)
Title A missense mutation in CRYGD linked with autosomal dominant congenital cataract of aculeiform type .
Author Vanita,V. and Singh,D.
Journal Mol. Cell. Biochem. 368 (1-2), 167-172 (2012)
Title Structural and biochemical characterization of the childhood cataract-associated R76S mutant of human gammaD-crystallin .
Author Ji,F., Jung,J. and Gronenborn,A.M.
Journal Biochemistry 51 (12), 2588-2596 (2012)
Title Cataract-causing defect of a mutant gamma-crystallin proceeds through an aggregation pathway which bypasses recognition by the alpha-crystallin chaperone .
Author Moreau,K.L. and King,J.A.
Journal PLoS ONE 7 (5), E37256 (2012)
Title Human gamma-crystallin genes. A gene family on its way to extinction .
Author Brakenhoff,R.H., Aarts,H.J., Reek,F.H., Lubsen,N.H. and Schoenmakers,J.G.
Journal J. Mol. Biol. 216 (3), 519-532 (1990)
Title Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family .
Author Meakin,S.O., Du,R.P., Tsui,L.C. and Breitman,M.L.
Journal Mol. Cell. Biol. 7 (8), 2671-2679 (1987)
Title A locus for a human hereditary cataract is closely linked to the gamma-crystallin gene family .
Author Lubsen,N.H., Renwick,J.H., Tsui,L.C., Breitman,M.L. and Schoenmakers,J.G.
Journal Proc. Natl. Acad. Sci. U.S.A. 84 (2), 489-492 (1987)
Title Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36 .
Author Shiloh,Y., Donlon,T., Bruns,G., Breitman,M.L. and Tsui,L.C.
Journal Hum. Genet. 73 (1), 17-19 (1986)
Title Structural and evolutionary relationships among five members of the human gamma-crystallin gene family .
Author Meakin,S.O., Breitman,M.L. and Tsui,L.C.
Journal Mol. Cell. Biol. 5 (6), 1408-1414 (1985)

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