CRYAB

CRYAB
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	2KLR, 2N0K, 2WJ7, 2Y1Y, 2Y1Z, 2Y22, 2YGD, 3L1G, 3SGM, 3SGN, 3SGO, 3SGP, 3SGR, 3SGS, 4M5S, 4M5T, 3J07
Identifiers
Aliases	CRYAB, CMD1II, CRYA2, CTPP2, CTRCT16, HEL-S-101, HSPB5, MFM2, crystallin alpha B
External IDs	OMIM: 123590; MGI: 88516; HomoloGene: 68209; GeneCards: CRYAB; OMA:CRYAB - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	111,923,722 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	50,667,936 bp
RNA expression pattern
	Top expressed in
	myocardium of left ventricle; ; middle frontal gyrus; ; right auricle of heart; ; C1 segment; ; olfactory bulb; ; apex of heart; ; muscle of thigh; ; optic nerve; ; inferior ganglion of vagus nerve; ; right ventricle;
	Top expressed in
	epithelium of lens; ; ciliary body; ; iris; ; myocardium of ventricle; ; soleus muscle; ; sciatic nerve; ; gastrula; ; intercostal muscle; ; retinal pigment epithelium; ; masseter muscle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein homodimerization activity; microtubule binding; unfolded protein binding; metal ion binding; cytoskeletal protein binding; protein binding; structural constituent of eye lens; identical protein binding; amyloid-beta binding; protein-containing complex binding;
Cellular component	cytoplasm; Golgi apparatus; I band; microtubule cytoskeleton; nucleoplasm; cell surface; actin filament bundle; extracellular exosome; nucleus; cardiac myofibril; perikaryon; dendritic spine; synaptic membrane; synapse; M band; postsynaptic density; axon; mitochondrion; cytosol; plasma membrane; Z discdkac; contractile fiber; protein-containing complex;
Biological process	negative regulation of intracellular transport; response to estradiol; muscle contraction; regulation of cell death; ageing; negative regulation of apoptotic process; microtubule polymerization or depolymerization; protein folding; stress-activated MAPK cascade; negative regulation of cell growth; cellular response to gamma radiation; regulation of cellular response to heat; negative regulation of reactive oxygen species metabolic process; protein homooligomerization; response to hydrogen peroxide; response to hypoxia; lens development in camera-type eye; tubulin complex assembly; muscle organ development; multicellular organism aging; negative regulation of gene expression; negative regulation of protein homooligomerization; camera-type eye development; negative regulation of cysteine-type endopeptidase activity involved in apoptotic process; protein stabilization; apoptotic process involved in morphogenesis; negative regulation of amyloid fibril formation; negative regulation of transcription, DNA-templated;
	Sources:Amigo / QuickGO
Orthologs
	1410
	12955
	ENSG00000109846
	ENSMUSG00000032060
	P02511
	P23927
NM_001289807; NM_001289808; NM_001885; NM_001330379; NM_001368245;
	NM_001368246
	NM_001289782; NM_001289784; NM_001289785; NM_009964
NP_001276736; NP_001276737; NP_001317308; NP_001876; NP_001355174;
	NP_001355175
	NP_001276711; NP_001276713; NP_001276714; NP_034094
	Wikidata
View/Edit Human	View/Edit Mouse

Alpha-crystallin B chain is a protein that in humans is encoded by the CRYAB gene. It is part of the small heat shock protein family and functions as molecular chaperone that primarily binds misfolded proteins to prevent protein aggregation, as well as inhibit apoptosis and contribute to intracellular architecture. Post-translational modifications decrease the ability to chaperone. Mutations in CRYAB cause different cardiomyopathies, skeletal myopathies mainly myofibrillar myopathy, and also cataracts. In addition, defects in this gene/protein have been associated with cancer and neurodegenerative diseases such as Alzheimer's disease and Parkinson's disease.