Gene Symbol | CAPN1 |
Entrez Gene ID | 823 |
Full Name | calpain 1 |
Synonyms | CANP,CANP1,CANPL1,SPG76,muCANP,muCL |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Nov 2010]. |
Disorder MIM: | |
Disorder Html: | Spastic paraplegia 76, autosomal recessive, 616907 (3) |