TPM3 wt Allele

Preferred Label : TPM3 wt Allele;

NCIt synonyms : TM3; TM30nm; RP11-205M9.1; MGC72094; NEM1; MGC3261; TM5; TPMsk3; TRK; Tropomyosin 3 wt Allele; TM30; hscp30; MGC14582; OK/SW-cl.5; TM-5; FLJ41118;

NCIt definition : Human TPM3 wild-type allele is located in the vicinity of 1q21.2 and is approximately 39 kb in length. This allele, which encodes tropomyosin alpha-3 chain protein, is involved in the mediation of muscle filament movement. Mutation of the gene is associated with nemaline myopathy type 1 and thyroid papillary carcinoma. A chromosomal rearrangement affecting this gene and the NTRK gene is associated with thyroid papillary carcinoma. A chromosomal translocation t(1;2)(q25;p23) of the gene and the ALK gene is associated with rare cases of both anaplastic large cell lymphoma and inflammatory myofibroblastic tumors.;

GenBank Accession Number : BC008425;

Details

Origin ID

C97850;

UMLS CUI

C3273659;

OMIM relation
- Tropomyosin 3 [OMIM gene]
See also inter- (CISMeF)
- Multiple endocrine neoplasia type 1 [ORDO Disease]
- multiple endocrine neoplasia type 1 [MeSH Descriptor]
- nemaline myopathy 1 [DO Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Tropomyosin 3 [OMIM gene]
- tropomyosin 3 [ORDO Gene]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
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]
- Papillary Thyroid Carcinoma Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Movement 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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