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 ?
At present congenital cataract is associated with mutation in more than 18 known genes that include; FTL, CRYGC, CRYBB2, CRYBA1, EPHA2, CRYAB, CHMP4B.
sup][1],[10] Of the more than 29 known nonsyndromic CC genes, at least 22 are involved in autosomal dominant congenital cataract (ADCC), including BEST1 , BFSP2 , CHMP4B , CRYAA , CRYAB , CRYBA1 , CRYBA4 , CRYBB1 , CRYBB2 , CRYBB3 , CRYGC , CRYGD , CRYGS , EPHA2 , GJA3 , GJA8 , HSF4 , MAF , MIP , PITX3 , SLC16A12 , and VIM .
Otro de los marcadores encontrados asociados a grasa intramuscular esta flanqueando en CRYAB, gen DE y que ha sido previamente asociado a contenido de grasa intramuscular (Reverter et al.
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 .