PRRX1 wt Allele

Preferred Label : PRRX1 wt Allele;

NCIt synonyms : PMX1; PRX1; Paired Related Homeobox 1 wt Allele; PHOX1; Paired Mesoderm Homeo Box 1 Gene; AGOTC; PRX-1; Paired-Related Homeobox Gene 1; Paired Mesoderm Homeobox 1 Gene;

NCIt definition : Human PRRX1 wild-type allele is located in the vicinity of 1q24 and is approximately 76 kb in length. This allele, which encodes paired mesoderm homeobox protein 1, is involved in the regulation of muscle creatine kinase expression.;

NCIt note : A translocation t(1;11)(q23;p15.5) involving the NUP98 gene and the PRRX1 gene was reported in one case of therapy related myelodysplasic syndrome.;

GenBank Accession Number : M95929;

Details

Origin ID

C98031;

UMLS CUI

C3273774;

Automatic exact mappings (from CISMeF team)
- Agnathia-otocephaly complex [OMIM Phenotype]
- Paired-related homeobox gene 1 [OMIM gene]
- paired related homeobox 1 [ORDO Gene]
OMIM relation
- Paired-related homeobox 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_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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