HGD homogentisate 1,2-dioxygenase
Gene ID: 3081, updated on 27-Nov-2024Gene type: protein coding
Also known as: AKU; HGO
- See all available tests in GTR for this gene
- Go to complete Gene record for HGD
- Go to Variation Viewer for HGD variants
Summary
This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Alkaptonuria | See labs |
Genomic context
- Location:
- 3q13.33
- Sequence:
- Chromosome: 3; NC_000003.12 (120628172..120682239, complement)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HGD variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- AKU Database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HGD database
- HGD mutation 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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