• Source: Calpain-3

3/info/calpain" target="_blank">Calpain-3 is a protein that in humans is encoded by the CAPN3 gene.




Function


3/info/calpain" target="_blank">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 3/info/calpain" target="_blank">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.
In melanocytic cells CAPN3 gene expression may be regulated by MITF.




Interactions


CAPN3 has been shown to interact with Titin.




References






Further reading






External links


The MEROPS online database for peptidases and their inhibitors: C02.004 Archived 2008-04-11 at the Wayback Machine
GeneReviews/NCBI/NIH/UW entry on Calpainopathy
LOVD mutation database: CAPN3
Human CAPN3 genome location and CAPN3 gene details page in the UCSC Genome Browser.

Kata Kunci Pencarian:

• My Little Pony: Friendship is Magic (musim 8)
• Titin
• My Little Pony: Friendship is Magic (musim 7)
• My Little Pony: Friendship is Magic (musim 6)
• My Little Pony: Equestria Girls (film)
• Calpain-3
• Calpain
• Calpainopathy
• Titin
• Calpain-1
• Limb–girdle muscular dystrophy
• Calpain-2
• ANKRD1
• Chromosome 15
• List of EC numbers (EC 3)