HOXA13 wt Allele

Preferred Label : HOXA13 wt Allele;

NCIt synonyms : Homeo Box 1J Gene; HOX1; Homeo Box A13 Gene; Homeobox A13 wt Allele; HOX1J;

NCIt definition : Human HOXA13 wild-type allele is located in the vicinity of 7p15.2 and is approximately 7 kb in length. This allele, which encodes homeobox protein Hox-A13, is involved in transcriptional regulation during skeletal development. Mutation of the gene is associated with hand-foot-genital syndrome and Guttmacher syndrome.;

GenBank Accession Number : NM_000522;

Details

Origin ID

C97572;

UMLS CUI

C3273498;

OMIM relation
- Homeobox a13 [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]
- Skeletal Development [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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