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MFM2A

Chr 11AD

crystallin alpha B

Also known as: CMD1II, CRYA2, CTPP2, CTRCT16, HEL-S-101, HSPB5, MFM2, MFM2A

NCBI Gene: 1410 OMIM: 608810

Alpha-B crystallin functions as a molecular chaperone that holds misfolded proteins in large soluble aggregates and is widely expressed in many tissues beyond the lens. Mutations cause autosomal dominant myofibrillar myopathy 2A with adult onset. This gene is broadly expressed in neurological tissues where elevated expression occurs in many neurological diseases.

OMIM ResearchSummary from RefSeq, OMIM

Mammalian lens crystallins are divided into alpha, beta, and gamma families. 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 (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. 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. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2019]

OMIM ResearchGenerating clinical summary…

AD1 OMIM phenotype

Clinical Summary— MFM2A

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Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/MFM2A?content-type=application/json&expand=1

gnomad: Error: Gene not found