GMDS wt Allele

Preferred Label : GMDS wt Allele;

NCIt synonyms : RP1-118B18.1; GMD; SDR3E1; GDP-Mannose 4,6-Dehydratase wt Allele; Short Chain Dehydrogenase/Reductase Family 3E, Member 1 Gene;

NCIt definition : Human GMDS wild-type allele is located in the vicinity of 6p25 and is approximately 622 kb in length. This allele, which encodes GDP-mannose 4,6 dehydratase protein, plays a role in nucleotide-sugar complex metabolism.;

NCIt note : There is a report of a chromosomal aberration involving the GMDS gene and the PDE8B gene, which is associated with breast cancer. (COSMIC);

GenBank Accession Number : AF042377;

Details

Origin ID

C114602;

UMLS CUI

C3890725;

Automatic exact mappings (from CISMeF team)
- GDP-mannose 4,6-dehydratase activity [GO term]
- Gdp-mannose 4,6-dehydratase [OMIM gene]
OMIM relation
- Gdp-mannose 4,6-dehydratase [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
- 6p25 [NCIt concept]
gene_is_element_in_pathway
- Amino and Nucleotide Sugars Metabolism Pathway [NCIt concept]
- Fructose and Mannose Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Nucleotide Metabolic Process [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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