PAX7 wt Allele

Preferred Label : PAX7 wt Allele;

NCIt synonyms : Paired Box Homeotic Gene 7; Paired Domain Gene 7; HUP1; Paired Box 7 wt Allele; Paired Box Gene 7 Gene;

NCIt definition : Human PAX7 wild-type allele is located within 1p36.2-p36.12 and is approximately 105 kb in length. This allele, which encodes paired box gene Pax-7 protein, plays a role in both fetal neural crest formation and myoblast differentiation. In alveolar rhabdomyosarcoma, the wild-type allele is involved in a translocation t(1;13)(p36;q14) with the FOXO1 wild-type allele.;

GenBank Accession Number : NM_002584;

Details

Origin ID

C52147;

UMLS CUI

C1705584;

OMIM relation
- Paired box gene 7 [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
- 1p36.2-p36.12 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Maturation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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