SEPTIN9 wt Allele

Preferred Label : SEPTIN9 wt Allele;

NCIt synonyms : MLL Septin-Like Fusion Gene; PNUTL4; SINT1; Ov/Br Septin Gene; KIAA0991; AF17q25; FLJ75490; Septin 9 wt Allele; NAPB; SeptD1; MSF1; MSF; SEPT9; Peanut-Like 4 Gene;

NCIt related terms : SEPT9 wt Allele;

NCIt definition : Human SEPT9 wild-type allele is located in the vicinity of 17q25.3 and is approximately 219 kb in length. This allele, which encodes septin-9 protein, is involved in the regulation of microfilament formation. Mutation of the gene is associated with hereditary neuralgic amyotrophy. A chromosomal translocation t(11;17)(q23;q25) of this gene and the MLL gene is associated with acute myeloid leukemia.;

GenBank Accession Number : AB023208;

Details

Origin ID

C97898;

UMLS CUI

C3273682;

OMIM relation
- Septin 9 [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
- 17q25.3 [NCIt concept]
gene_plays_role_in_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients