SIX1 wt Allele

Preferred Label : SIX1 wt Allele;

NCIt synonyms : Sine Oculis Homeobox (Drosophila) Homolog 1 Gene; Deafness, Autosomal Dominant 23 Gene; TIP39; DFNA23; BOS3; Sine Oculis Homeobox Homolog 1 (Drosophila) Gene; SIX Homeobox 1 wt Allele; Sine Oculis Homeobox, Drosophila, Homolog of, 1 Gene;

NCIt definition : Human SIX1 wild-type allele is located in the vicinity of 14q23.1 and is approximately 3 kb in length. This allele, which encodes homeobox protein SIX1, may play a role in skeletal muscle development. Mutation of the gene is associated with both autosomal dominant deafness type 23 and branchiootic syndrome type 3.;

GenBank Accession Number : X91868;

Details

Origin ID

C84413;

UMLS CUI

C2827437;

OMIM relation
- Six homeobox 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
- 14q23.1 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Limb Development [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients