C201682Level 5
GLUD1 wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - GDH - GDH1 - GLUD - Glutamate Dehydrogenase 1 wt Allele - hGDH1
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