alpha-crystallin B chain; alpha(B)-crystallin; heat shock protein beta-5; HspB5; renal carcinoma antigen NY-REN-27; Rosenthal fiber component (CRYAB CRYA2)
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Function
- may contribute to the transparency & refractive index of the lens
- aggregates with homologous proteins, including alpha-A crystallin (CRYAA) & HSPB1 (hsp28), to form large heteromeric complexes
- interacts with HSPBAP1 & TTN/titin
Structure
- homodimer
- belongs to the small heat shock protein (HSP20) family
Compartment
- cytoplasm, nucleus
- translocates to the nucleus during heat shock
- resides in nuclear speckles
Expression
- lens
- other tissues
- brain & Rosenthal fibers in Alexander's disease
Pathology
- mutations associated with alpha-B crystallinopathy
- antibodies to CRYAB in spinal fluid of patients with multiple sclerosis
- CRYAB confers protective effect in experimental autoimmune encephalomyelitis
- defects in CRYAB are the cause of
- myofibrillar myopathy type 2
- cataract posterior polar type 2
- myofibrillar myopathy fatal infantile hypertonic
More general terms
References
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1410
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1410
- OMIM: https://mirror.omim.org/entry/123590
- OMIM: https://mirror.omim.org/entry/608810
- OMIM: https://mirror.omim.org/entry/613763
- OMIM: https://mirror.omim.org/entry/613869
- UniProt: http://www.uniprot.org/uniprot/P02511.html