CRYAB

CRYAB

A gene on chromosome 11q22.3-q23.1 that encodes alpha crystallin B, a protein induced by heat shock that belongs to the small heat shock protein (sHSP, or HSP20) family. Alpha crystallins have features of molecular chaperones, but do not renature and release proteins like true chaperones.

Molecular pathology
Defects in CRYAB cause:
• Cataract posterior polar type 2;
• Myofibrillar myopathy fatal infantile hypertonic alpha-B crystallin-related;
• Myofibrillar myopathy type 2.
References in periodicals archive ?
Four of them--HPCA, CACNG3, CA10, PLPPR4--were repressed and one overexpressed CRYAB. The four repressed genes are expressed preferentially in neurons and regulate the synaptic function and the neuronal plasticity, while the overexpressed gene is characteristic for neuroglia cells, its expression is activated as a response to neuronal damage and facilitates myelinization and regeneration.
In the heatmap the repressed genes were organized in a cluster, the only overexpressed gene (CRYAB) remained outside this cluster.
In the overexpressed gene network (figure 2B) only one hub gene was identified: Alpha-crystallin B chain (CRYAB).
Zhao, "HMGA1 mediates the activation of the CRYAB promoter by BRG1," DNA and Cell Biology, vol.
ACOT2 CFD GCSH LACTB RASSF2 ACY1 CITED2 GJA4 LRP8 RSAD2 ADAMTS9 CRYAB GSTP1 LRRC58 RUNX2 ALCAM CTGF HACD4 NFKB1 SLC26A7 ANKRD9 CXCL1 HSD17B1 NR3C2 SMIM22 ARHGAP22 DGAT2 IGFBP5 NRIP3 SPARC BHLHE40 EGR1 IGFBP7 NUP107 STS BRAF EIF4E IRGQ OPRK1 TAZ CAMK1G ENPP1 JUN OSTALPHA TEKT4 CAMKK2 F10 KCNJ15 PBLD TG CD47 FAM13A KCNJ16 POMT1 TMEM140 CDA FGFR2 KCNK1 PRR5L TRIB1 CDH16 FOXE1 KRT14 RAB17 WBP2 CDH16 GALK2 KRT7 RASL10A WNT4
In addition, alpha-B crystallin (CRYAB) may play a role in the incidence of cataracts and AMD by protecting cells from apoptosis, regulating cell signals and resisting oxidative stress [13, 14].
We inoculated the cell suspension (100 [micro]l/well) in a 96-well plate at 37[degrees]C in 5% C[O.sub.2] after adding CRYAB at 1 ng/ml, 10 ng/ml, and 100 ng/ml.
At present congenital cataract is associated with mutation in more than 18 known genes that include; FTL, CRYGC, CRYBB2, CRYBA1, EPHA2, CRYAB, CHMP4B.
Furthermore, concerning the behaviour of alpha-crystallin B chain (CRYAB), which belongs to the chaperone family whose main role is to bind improperly folded proteins to prevent protein aggregation [77], we have found that the treatment with resveratrol increased the expression of CRYAB in CRT cells and, on the contrary, induced a decreased expression in P1 cells, reestablishing the levels of control cells (Tables 5 and 7) (Figure 4).
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.
Genetic screening of genes causing hereditary skeletal and cardiomyopathies was performed using targeted next-generation sequencing, and the screened gene panel included SGCD , TCAP , TRIM32 , TTN , FKTN , MYOT , LMNA , CAV3 , EMD , FHL1 , LAMA2 , ITGA7 , SEPN1 , ACTA1 , DES , CRYAB , LDB3 , BAG3 , STA , DMD , MYH7 , and LAMP2 .