PAX1 wt Allele

Preferred Label : PAX1 wt Allele;

NCIt synonyms : Paired Domain Gene HuP48; Paired Box 1 wt Allele; RP5-1065O2.3; Paired Box Gene 1; HUP48;

NCIt definition : Human PAX1 wild-type allele is located in the vicinity of 20p11.2 and is approximately 10 kb in length. This allele, which encodes paired box protein Pax-1, plays a role in transcriptional regulation.;

GenBank Accession Number : NM_006192;

Details

Origin ID

C106275;

UMLS CUI

C3814047;

Automatic exact mappings (from CISMeF team)
- Paired box gene 1 [OMIM gene]
OMIM relation
- Paired box gene 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
- 20p11.2 [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Skeletal Development [NCIt concept]
- T-Cell Differentiation [NCIt concept]
- Transcription [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients