Gene: CAPN1

Alternate names for this Gene: CANP|CANP1|CANPL1|SPG76|muCANP|muCL

Gene Summary: 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: calpain 1

Type of Gene: protein-coding

rs756205995 in CAPN1 gene and SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE PMID 27153400 2016 Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia.

rs34888828 in CAPN1 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.