CAPN14 Chromosome 2
Calpain 14
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What This Gene Does
Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions, and synaptic plasticity (Dear et al., 2000 [PubMed 10964513]). CAPN14 belongs to the calpain large subunit family.[supplied by OMIM, Mar 2008]
Gene Info
Gene Group
"EF-hand domain containing|Calpains"
Locus Type
gene with protein product
Location
2p23.1
Ensembl
ENSG00000214711
Associated Conditions (1)
Amyotrophic lateral sclerosis
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS181906086 | Health Risk | Conflicting classifications of pathogenicity | Amyotrophic lateral sclerosis, Amyotrophic lateral sclerosis |