CAPN1

calpain 1

11q13.1

Also known as: CANP, CANP1, CANPL1, SPG76, muCANP, muCL

Gene Summary

RefSeq / NCBI

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

External Resources

WUSTL Neuromuscular

Washington University Disease Center

ClinGen

Clinical Genome Resource

G2P

Gene-to-Phenotype (EBI)

GeneReviews

NCBI Expert-Authored Reviews

NCBI Gene

National Center for Biotechnology Information

PubMed

Biomedical Literature

UniProt

Universal Protein Resource

DECIPHER

DatabasE of genomiC varIation and Phenotype in Humans

Gene data compiled from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.