CAV3 wt Allele

Preferred Label : CAV3 wt Allele;

NCIt synonyms : VIP-21; MPDT; VIP21; Caveolin 3 wt Allele; LGMD1C; RMD2; LQT9;

NCIt definition : Human CAV3 wild-type allele is located in the vicinity of 3p25.3 and is approximately 108 kb in length. This allele, which encodes caveolin-3 protein, is involved in caveolae formation Mutation of the gene is associated with familial hypertrophic cardiomyopathy, long QT syndrome 9, distal Tateyama type myopathy, limb-girdle muscular dystrophy type-1C, hyperCKemia and rippling muscle disease 2.;

NCIt note : For the CAV3 gene, two potential translation initiation sites are present; additionally, alternative splicing with differential inclusion or exclusion of a specific intron, utilization of multiple polyA sites occurs. (EntrezGene);

NCI Metathesaurus CUI : CL1912900;

GenBank Accession Number : AF043101;

Details

Origin ID

C192755;

UMLS CUI

C5781204;

OMIM relation
- Caveolin 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p25.3 [NCIt concept]
gene_is_element_in_pathway
- Bacterial Invasion of Epithelial Cell Pathway [NCIt concept]
- Endocytosis Pathway [NCIt concept]
- Focal Adhesion Pathway [NCIt concept]
- PDGFR-alpha Signaling Pathway [NCIt concept]
- Prion Disease Pathway [NCIt concept]
gene_plays_role_in_process
- Myogenesis [NCIt concept]
- Receptor Mediated Endocytosis [NCIt concept]
- Signal Transduction [NCIt concept]

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