GLUD1 glutamate dehydrogenase 1
Gene ID: 2746, updated on 5-May-2024Gene type: protein coding
Also known as: GDH; GDH1; GLUD; hGDH1
- See all available tests in GTR for this gene
- Go to complete Gene record for GLUD1
- Go to Variation Viewer for GLUD1 variants
Summary
This gene encodes glutamate dehydrogenase, which is 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. It is allosterically activated by ADP and inhibited by GTP and ATP. Activating mutations in this gene are a common cause of congenital hyperinsulinism. Alternative splicing of this gene results in multiple transcript variants. 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. Related pseudogenes have been identified on chromosomes 10, 18 and X. [provided by RefSeq, Jan 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hyperinsulinism-hyperammonemia syndrome | See labs |
Genomic context
- Location:
- 10q23.2
- Sequence:
- Chromosome: 10; NC_000010.11 (87050202..87094843, complement)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GLUD1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GLUD1 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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