GLUD1 Back

glutamate dehydrogenase 1

External References:      Wikipedia GeneCards HUGO COSMIC Google Scholar

NCBI Description of GLUD1
This gene encodes glutamate dehydrogenase protein; a mitochondrial matrix enzyme that catalyzes the oxidative deamination of glutamate to alpha-ketoglutarate and ammonia. This enzyme has an important role in regulating amino acid induced insulin secretion and activating mutations in this gene are a common cause of congenital hyperinsulinism. This enzyme is allosterically activated by ADP and inhibited by GTP and ATP. The related glutamate dehydrogenase 2 gene on the human X-chromosome originated from this gene via retrotransposition and encodes a soluble form of glutamate dehydrogenase. Multiple pseudogenes of this gene are present in humans.

Community Annotation of GLUD1 Add / Edit GLUD1: Annotations

No community annotations yet for GLUD1.
Sort mutations by: Tumor type  Mutation type  Position  
Straightedge cursor Expand

Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

GLUD1 is highly significantly mutated in
(none)
GLUD1 is significantly mutated in
(none)
GLUD1 is near significance in
(none)

Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for GLUD1