Property Summary

NCBI Gene PubMed Count 13
PubMed Score 9.99
PubTator Score 7.33

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (1)

Disease Z-score Confidence
Cataract 104 3.235 1.6

Gene RIF (3)

PMID Text
19463898 Studies show that The major proteins in the lens--alpha, beta, and gamma-crystallins--are constantly subjected to age-related changes.
19384013 This study establishes baseline frequency data for four SNPs in CRYGA and CRYGB genes for future case control studies on the role of these SNPs in the genetic basis of cataract.
19384013 Observational study of genotype prevalence. (HuGE Navigator)

AA Sequence

MGKITFYEDRDFQGRCYNCISDCPNLRVYFSRCNSIRVDSGCWMLYERPNYQGHQYFLRRGKYPDYQHWM      1 - 70
GLSDSVQSCRIIPHTSSHKLRLYERDDYRGLMSELTDDCACVPELFRLPEIYSLHVLEGCWVLYEMPNYR     71 - 140
GRQYLLRPGDYRRYHDWGGADAKVGSLRRVTDLY                                        141 - 174
//

Text Mined References (14)

PMID Year Title
19463898 2009 Lens aging: effects of crystallins.
19384013 Analysis of single nucleotide polymorphisms of CRYGA and CRYGB genes in control population of western Indian origin.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
12507494 2003 Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12011157 2002 Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.
10627816 1999 Structure of the crystallins.
9426193 1997 The crystallins: genes, proteins and diseases.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
3670288 1987 Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family.
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