CRYAB

                                                                                                       (Crystallin, alpha B)

  • Alias                                 (According to NCBI)

 
  • CRYA2 
  • CTPP2
  • HSPB5
  • crystallin, alpha B
  • heat-shock 20 kD like-protein
  • Alpha crystallin B chain (Alpha(B)-crystallin) (Rosenthal fiber component) (Heat-shock protein
    beta-5) (HspB5)

  • Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (sHSP also known as the HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy.
  • Location: 11q22.3-q23.1
  • Orientation: Minus strand
  • Size: 3,146 bases
  • 3 Exons
  • DNA Sequence: NT_033899

             

  • CGH ( 11q22.3 - 23.1) :  Losses (%) -11.3    Gain (%) 6.3   Amplifications  0.0
  • Mutations and SNPs (According to HGMD and SNP)
  • HGMD (Human Gene Mutation Database):
  • SNPs: CRYAB
  • m-RNA                       (According to NCBI and CGAP)

 
  • Size: 175 amino acids; 20159 Da
  • Protein domains:

                                                               
  • Pathways and interactions (According to BioCarta, DIP)
  • Pathways:
  • Interactions:
  • Clinical                            (According to OMIM, PubMed)