L2HGDH L-2-hydroxyglutarate dehydrogenase
Gene ID: 79944, updated on 2-Nov-2024Gene type: protein coding
Also known as: L2HGA; C14orf160
- See all available tests in GTR for this gene
- Go to complete Gene record for L2HGDH
- Go to Variation Viewer for L2HGDH variants
Summary
This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years. GeneReviews: Not available | |
| L-2-hydroxyglutaric aciduria | See labs |
Genomic context
- Location:
- 14q21.3
- Sequence:
- Chromosome: 14; NC_000014.9 (50242434..50312229, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for L2HGDH variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- L2HGDH @ LOVD
- 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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