TPM1 wt Allele

Preferred Label : TPM1 wt Allele;

NCIt synonyms : Cardiomyopathy, Hypertrophic 3 Gene; HTM-alpha; CMH3; LVNC9; C15orf13; CMD1Y; TMSA; Tropomyosin 1 (Alpha) wt Allele; Chromosome 15 Open Reading Frame 13 Gene;

NCIt definition : Human TPM1 wild-type allele is located in the vicinity of 15q22.1 and is approximately 29 kb in length. This allele, which encodes tropomyosin alpha-1 chain protein, is involved in the regulation of muscle contraction. Mutation of the gene is associated with left ventricular non-compaction 9 and cardiomyopathy types familial hypertrophic 3 and dilated 1Y.;

GenBank Accession Number : AB209041;

Details

Origin ID

C113123;

UMLS CUI

C3811667;

Automatic exact mappings (from CISMeF team)
- Cardiomyopathy, dilated, 1y [OMIM Phenotype]
- Cardiomyopathy, familial hypertrophic, 3 [OMIM Phenotype]
- Tropomyosin 1 [OMIM gene]
- dilated cardiomyopathy 1Y [DO Concept]
- hypertrophic cardiomyopathy 3 [DO Concept]
- tropomyosin 1 [ORDO Gene]
OMIM relation
- Tropomyosin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Cardiac Muscle Contraction Pathway [NCIt concept]
- Dilated Cardiomyopathy Pathway [NCIt concept]
- Hypertrophic Cardiomyopathy Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cellular Migration Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Muscle Contraction [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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