CAPN12 Chromosome 19
Calpain 12
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What This Gene Does
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 a member of the calpain large subunit family. [provided by RefSeq, Jun 2012]
Gene Info
Gene Group
"EF-hand domain containing|Calpains"
Locus Type
gene with protein product
Location
19q13.2
Ensembl
ENSG00000182472
Associated Conditions (1)
CAPN12-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS112433506 | Health Risk | Conflicting classifications of pathogenicity | CAPN12-related disorder, CAPN12-related disorder |
| RS115604294 | Health Risk | Conflicting classifications of pathogenicity | CAPN12-related disorder, CAPN12-related disorder |