MYH11 wt Allele

Preferred Label : MYH11 wt Allele;

NCIt synonyms : KIAA0866; MYH11; FAA4; Myosin, Heavy Chain 11, Smooth Muscle wt Allele; AAT4; SMHC; Myosin, Smooth Muscle, Heavy Chain 11 Gene; SMMHC; Myosin, Heavy Polypeptide 11, Smooth Muscle Gene; Myosin Heavy Chain 11 wt Allele; SMMS-1;

NCIt definition : Human MYH11 wild-type allele is located in the vicinity of 16p13.11 and is approximately 154 kb in length. This allele, which encodes myosin-11 protein, plays a role in the regulation of muscle contraction. The gene can be involved in a pericentric inversion inv(16)(p13;q22) that is found in acute myeloid leukemia of M4Eo subtype.;

GenBank Accession Number : NM_002474;

Details

Origin ID

C52448;

UMLS CUI

C1705290;

Automatic exact mappings (from CISMeF team)
- Aortic aneurysm, familial thoracic 4 [OMIM Phenotype]
- Myosin, heavy chain 11, smooth muscle [OMIM gene]
- myosin heavy chain 11 [ORDO Gene]
OMIM relation
- Myosin, heavy chain 11, smooth muscle [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
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_in_chromosomal_location
- 16p13.13-p13.12 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 [NCIt concept]
- Acute Myelomonocytic Leukemia with Abnormal Eosinophils [NCIt concept]
gene_is_element_in_pathway
- Tight Junction Assembly Pathway [NCIt concept]
- Vascular Smooth Muscle Contraction Pathway [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- 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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