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MFM2A
Chr 11ADcrystallin alpha B
Also known as: CMD1II, CRYA2, CTPP2, CTRCT16, HEL-S-101, HSPB5, MFM2, MFM2A
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.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/MFM2A?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MFM2A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →No open access results found
External Resources
Links to major genomics databases and tools