Property Summary

NCBI Gene PubMed Count 19
PubMed Score 13.81
PubTator Score 15.86

Knowledge Summary

Patent

No data available

Expression

Gene RIF (4)

PMID Text
22792142 rs2009066 located in the crystallin beta A4 (CRYBA4) gene was identified to be the most significantly associated with high myopia.
20577656 Novel missense mutation in CRYBA4 expands mutation spectrum of CRYBA4 and provides useful information to study of molecular pathogenesis of cataract and microcornea.
20057906 Observational study of gene-disease association. (HuGE Navigator)
16960806 first report linking mutations in CRYBA4 to cataractogenesis and microphthalmia

AA Sequence

MTLQCTKSAGPWKMVVWDEDGFQGRRHEFTAECPSVLELGFETVRSLKVLSGAWVGFEHAGFQGQQYILE      1 - 70
RGEYPSWDAWGGNTAYPAERLTSFRPAACANHRDSRLTIFEQENFLGKKGELSDDYPSLQAMGWEGNEVG     71 - 140
SFHVHSGAWVCSQFPGYRGFQYVLECDHHSGDYKHFREWGSHAPTFQVQSIRRIQQ                  141 - 196
//

Publication (18)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
22792142 2012 Association of high myopia with crystallin beta A4 (CRYBA4) gene polymorphisms in the linkage-identified MYP6 locus.
20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
20577656 2010 A missense mutation in CRYBA4 associated with congenital cataract and microcornea.
20057906 2009 Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
16960806 2006 CRYBA4, a novel human cataract gene, is also involved in microphthalmia.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15461802 2004 A genome annotation-driven approach to cloning the human ORFeome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12360425 2002 A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.
More...