PHGDH wt Allele

Preferred Label : PHGDH wt Allele;

NCIt synonyms : PGD; SERA; PDG; 3PGDH; PGDH3; PGDH; 3-PGDH; Phosphoglycerate Dehydrogenase wt Allele; PGAD;

NCIt definition : Human PHGDH wild-type allele is located in the vicinity of 1p12 and is approximately 84 kb in length. This allele, which encodes D-3-phosphoglycerate dehydrogenase protein, is involved in both amino acid biosynthesis and oxidoreductase activity. Mutation of the gene is associated with phosphoglycerate dehydrogenase deficiency.;

NCIt note : Recent studies have implicated aberrant expression of this gene and its role in serine synthesis in breast cancer tumorigenesis. (Nature. 2011; 476: 346-350.);

GenBank Accession Number : BC011262;

PubMed : 21760589;

Details

Origin ID

C99475;

UMLS CUI

C3274756;

Automatic exact mappings (from CISMeF team)
- 15-hydroxyprostaglandin dehydrogenase [OMIM gene]
- 6-phosphogluconate dehydrogenase [OMIM gene]
- Persistent genital arousal in women [ICD-11 More detail]
- Phosphoglycerate dehydrogenase [OMIM gene]
- Serum [LOINC System]
- phosphoglycerate dehydrogenase [ORDO Gene]
- phosphoglycerate dehydrogenase activity [GO term]
- prostaglandins D [MeSH Descriptor]
- serum [MeSH Descriptor]
False automatic mappings
- Contact with health services for preimplantation genetic diagnosis [ICD-11 More detail]
OMIM relation
- Phosphoglycerate dehydrogenase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Glycine, Serine and Threonine Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]
- Nervous System Development [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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