TWIST1 wt Allele

Preferred Label : TWIST1 wt Allele;

NCIt synonyms : BPES2; Twist Homolog 1 (Acrocephalosyndactyly 3; Saethre-Chotzen Syndrome) (Drosophila) wt Allele; BPES3; ACS3; SCS; TWIST;

NCIt definition : Human TWIST1 wild-type allele is located in the vicinity of 17p13.3 and is approximately 16 kb in length. This allele, which encodes twist-related protein 1, plays a role in the regulation of both transcription and cell lineage determination. Mutations in the gene are associated with Saethre-Chotzen, Robinow-Sorauf, and Baller-Gerold syndromes.;

GenBank Accession Number : NM_000474;

Details

Origin ID

C53115;

UMLS CUI

C1704897;

False automatic mappings
- Blood group--scianna system [OMIM Phenotype]
OMIM relation
- Twist family bhlh transcription factor 1 [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
- 7p21.2 [NCIt concept]
gene_is_element_in_pathway
- HIF-2-Alpha Transcription Factor Pathway [NCIt concept]
- Ribosomal Biogenesis Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Myogenesis [NCIt concept]
- Protein Dimerization [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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