HPD 4-hydroxyphenylpyruvate dioxygenase
Gene ID: 3242, updated on 3-Nov-2024Gene type: protein coding
Also known as: PPD; HPPD; 4HPPD; GLOD3; 4-HPPD; HPPDASE
- See all available tests in GTR for this gene
- Go to complete Gene record for HPD
- Go to Variation Viewer for HPD variants
Summary
The protein encoded by this gene is an enzyme in the catabolic pathway of tyrosine. The encoded protein catalyzes the conversion of 4-hydroxyphenylpyruvate to homogentisate. Defects in this gene are a cause of tyrosinemia type 3 (TYRO3) and hawkinsinuria (HAWK). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of metabolic traits in human urine. GeneReviews: Not available | |
| Hawkinsinuria | See labs |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Tyrosinemia type III | See labs |
Genomic context
- Location:
- 12q24.31
- Sequence:
- Chromosome: 12; NC_000012.12 (121839527..121888611, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HPD variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HPD 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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