PMM2 wt Allele

Preferred Label : PMM2 wt Allele;

NCIt synonyms : PMI; CDGS; Mannose-6-Phosphate Isomerase Gene; Phosphomannose Isomerase 1 Gene; Congenital Disorder of Glycosylation, Type Ia Gene; CDG1a; Phosphomannomutase 2 wt Allele; PMM 2; PMI1; CDG1;

NCIt definition : Human PMM2 wild-type allele is located in the vicinity of 16p13.2 and is approximately 74 kb in length. This allele, which encodes phosphomannomutase 2 protein, plays a role in the synthesis of nucleotide sugars. Mutation of the gene is associated with congenital disorder of glycosylation 1a.;

NCI Metathesaurus CUI : CL1905056;

GenBank Accession Number : BC008310;

Details

Origin ID

C191426;

UMLS CUI

C5780972;

Automatic exact mappings (from CISMeF team)
- PMM2-CDG [ORDO Disease]
OMIM relation
- Phosphomannomutase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [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
- Carbohydrate Metabolic Process [NCIt concept]
- Protein Glycosylation [NCIt concept]

Keyword's position in hierarchy(ies) :

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