External References:
Wikipedia
GeneCards
HUGO
COSMIC
Google Scholar
NCBI Description of CAPN3 |
Calpain, a heterodimer consisting of a large and a small subunit, is a major intracellular protease, although its function has not been well established. This gene encodes a muscle-specific member of the calpain large subunit family that specifically binds to titin. Mutations in this gene are associated with limb-girdle muscular dystrophies type 2A. Alternate promoters and alternative splicing result in multiple transcript variants encoding different isoforms and some variants are ubiquitously expressed. |
Community Annotation of CAPN3 Add / Edit CAPN3: Annotations
No community annotations yet for CAPN3.
|
Figure notes
• "Mouse over" a mutation to see details. |
|
Click on a tumor type to see its full list of significant genes.
Data details