GMPPA wt Allele

Preferred Label : GMPPA wt Allele;

NCIt synonyms : Mannose-1-Phosphate Guanylyltransferase (GDP) Gene; GDP-Mannose Pyrophosphorylase A wt Allele; Mannose-1-Phosphate Guanyltransferase Alpha Gene; GDP-Mannose Pyrophosphorylase, Alpha Subunit Gene; AAMR;

NCIt definition : Human GMPPA wild-type allele is located in the vicinity of 2q35 and is approximately 15 kb in length. This allele, which encodes mannose-1-phosphate guanylyltransferase regulatory subunit alpha protein, is involved in the metabolism of GDP-mannose. Mutations in the gene are associated with alacrima, achalasia, and impaired intellectual development syndrome.;

GenBank Accession Number : AF135422;

Details

Origin ID

C217340;

OMIM relation
- Gdp-mannose pyrophosphorylase a [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2q35 [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
- Biosynthetic Process [NCIt concept]
- Carbohydrate Metabolic Process [NCIt concept]
- Enzyme Activity Alteration [NCIt concept]

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