CRYBB1

AcronymDefinition
CRYBB1Crystallin, Beta-B1
References in periodicals archive ?
A novel mutationin CRYBB1 associated with congenital cataract-microcornea syndrome: the p.Ser129Arg mutation destabilizes the [beta]B1/[beta]A3-crystallin heteromer but not the[beta] B1-crystallin homomer.
Forty-five genes implicated in the CC, including 29 nonsyndromic cataract genes ( AGK , BEST1 , BFSP1 , BFSP2 , CHMP4B , CRYAA , CRYAB , CRYBA1 , CRYBA4 , CRYBB1 , CRYBB2 , CRYBB3 , CRYGC , CRYGD , CRYGS , EPHA2 , FYCO1 , GJA3 , GJA8 , HSF4 , P3H2 , LIM2 , MAF , MIP , NHS , PITX3 , SLC16A12 , TDRD7 , and VIM ) and 16 syndromic cataract genes ( ABHD12 , CNBP , CTDP1 , EYA1 , FTL , GALK1 , GCNT2 , GFER , GJA1 , JAM3 , OPA3 , PAX6 , RAB3GAP2 , SIL1 , SIX6 , and SLC33A1 ), were collected from careful literature and database search.
The remaining transcripts, CRYBB1, EXOC6B, LOC416916, MAN1A2 and CHST3, showed inconsistent differential expression between qRT-PCR and microarray experiments.