GLUD1 wt Allele

Preferred Label : GLUD1 wt Allele;

NCIt synonyms : hGDH1; GLUD; Glutamate Dehydrogenase 1 wt Allele; GDH1; GDH;

NCIt definition : Human GLUD1 wild-type allele is located in the vicinity of 10q23.2 and is approximately 45 kb in length. This allele, which encodes glutamate dehydrogenase 1, mitochondrial protein, plays a role in the replenishment of alpha-ketoglutarate for use in the citric acid cycle and the modulation of insulin secretion. Mutation of the gene is associated with hyperinsulinism-hyperammonemia syndrome.;

NCI Metathesaurus CUI : CL1920859;

GenBank Accession Number : M20867;

Détails

Origin ID

C201682;

UMLS CUI

C5890881;

OMIM relation
- Glutamate dehydrogenase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 10q23.2 [NCIt concept]
gene_is_element_in_pathway
- Alanine, Aspartate and Glutamate Metabolism Pathway [NCIt concept]
- D-Glutamine and D-Glutamate Metabolism Pathway [NCIt concept]
- Nitrogen Metabolism Pathway [NCIt concept]
- Proximal Tubule Bicarbonate Reclamation Pathway [NCIt concept]
gene_plays_role_in_process
- Amino Acid Biosynthesis [NCIt concept]
- Biogenic Amine Metabolic Process [NCIt concept]
- Energy Metabolism Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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