QDPR quinoid dihydropteridine reductase
Gene ID: 5860, updated on 28-Oct-2024Gene type: protein coding
Also known as: DHPR; PKU2; HDHPR; SDR33C1
- See all available tests in GTR for this gene
- Go to complete Gene record for QDPR
- Go to Variation Viewer for QDPR variants
Summary
This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Dihydropteridine reductase deficiency | See labs |
Genomic context
- Location:
- 4p15.32
- Sequence:
- Chromosome: 4; NC_000004.12 (17486395..17512090, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for QDPR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BIOMDBdb : Database of Mutations Causing BH4 Deficiencies and other PND
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- QDPR database
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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