BPGM wt Allele

Preferred Label : BPGM wt Allele;

NCIt synonyms : DPGM; 2,3-Bisphosphoglycerate Phosphatase Gene; ECYT8; Bisphosphoglycerate Mutase wt Allele; 2,3-Bisphosphoglycerate Mutase Gene; 2,3-BPG Phosphatase Gene; Erythrocyte 2,3-Bisphosphoglycerate Mutase Gene;

NCIt definition : Human BPGM wild-type allele is located in the vicinity of 7q33 and is approximately 33 kb in length. This allele, which encodes bisphosphoglycerate mutase protein, plays a role in the regulation of hemoglobin oxygenation. Loss of function mutations in the gene is associated with familial erythrocytosis 8.;

NCI Metathesaurus CUI : CL1798989;

GenBank Accession Number : BC017050;

Details

Origin ID

C190315;

UMLS CUI

C5780944;

Automatic exact mappings (from CISMeF team)
- familial erythrocytosis 8 [DO Concept]
OMIM relation
- Bisphosphoglycerate mutase [OMIM gene]
See also inter- (CISMeF)
- Erythrocytosis, familial, 8 [OMIM Phenotype]
- bisphosphoglycerate mutase activity [GO term]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Bisphosphoglycerate mutase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Glycine, Serine and Threonine Metabolism Pathway [NCIt concept]
- Glycolysis/Gluconeogenesis Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Glycolysis [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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