CAPN3 wt Allele

Preferred Label : CAPN3 wt Allele;

NCIt synonyms : LGMDR1; Muscle-Specific Calcium-Activated Neutral Protease 3 Large Subunit Gene; Calcium-Activated Neutral Protease 3, Muscle-Specific, Large Subunit Gene; CANP3; Calpain, Large Polypeptide L3 Gene; Calpain III, Large Subunit Gene; Calpain 3 wt Allele; Calpain p94, Large [Catalytic] Subunit Gene; nCL-1; LGMD2; LGMD2A; LGMDD4; CANPL3; p94;

NCIt definition : Human CAPN3 wild-type allele is located in the vicinity of 15q15.1 and is approximately 53 kb in length. This allele, which encodes calpain-3 protein, is involved in cysteine proteinase activity. Mutation of the gene is associated with autosomal recessive limb-girdle muscular dystrophy 1 (limb-girdle muscular dystrophy type 2A) and autosomal dominant limb-girdle muscular dystrophy 4.;

NCI Metathesaurus CUI : CL1912896;

GenBank Accession Number : X85030;

Details

Origin ID

C192748;

UMLS CUI

C5781203;

Automatic exact mappings (from CISMeF team)
- TRAPPC11-related limb-girdle muscular dystrophy R18 [ORDO Disease]
OMIM relation
- Calpain 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Protein Cleavage [NCIt concept]
- Protein Degradation Process [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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