HOXA11 wt Allele

Preferred Label : HOXA11 wt Allele;

NCIt synonyms : Homeo Box A11 Gene; HOX1; Homeobox A11 wt Allele; HOX1I;

NCIt definition : Human HOXA11 wild-type allele is located in the vicinity of 7p15.2 and is approximately 4 kb in length. This allele, which encodes homeobox protein Hox-A11, plays a role in transcriptional regulation. Mutation of the gene is associated with radioulnar synostosis with amegakaryocytic thrombocytopenia. Two chromosomal aberrations inv(7)(p15q34) and t(7;7)(p15;q34) of this gene and the TCRB gene locus lead to ectopic expression of the HOXA11 gene and are associated with T-cell acute lymphoblastic leukemia. A chromosomal translocation t(7;11)(p15;p15) of this gene and the NUP98 gene might be associated with chronic myelogenous leukemia.;

GenBank Accession Number : NM_005523;

Details

Origin ID

C97569;

UMLS CUI

C3273496;

Automatic exact mappings (from CISMeF team)
- Homeobox a11 [OMIM gene]
- homeobox A1 [ORDO Gene]
- homeobox A11 [ORDO Gene]
- homeobox A13 [ORDO Gene]
OMIM relation
- Homeobox a11 [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
- 7p15.2 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- T Acute Lymphoblastic Leukemia, HOXA Dysregulated [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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