Gene
qdpra
- ID
- ZDB-GENE-070705-197
- Name
- quinoid dihydropteridine reductase a
- Symbol
- qdpra Nomenclature History
- Previous Names
-
- dhpra (1)
- si:ch211-89f22.2
- Type
- protein_coding_gene
- Location
- Chr: 14 Mapping Details/Browsers
- Description
- Predicted to enable 6,7-dihydropteridine reductase activity; NADH binding activity; and NADPH binding activity. Acts upstream of or within L-phenylalanine metabolic process and melanin biosynthetic process. Predicted to be active in cytoplasm. Is expressed in eye; liver; melanoblast; and presumptive retinal pigmented epithelium. Human ortholog(s) of this gene implicated in BH4-deficient hyperphenylalaninemia C and phenylketonuria. Orthologous to human QDPR (quinoid dihydropteridine reductase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from Breuer et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Breuer et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| BH4-deficient hyperphenylalaninemia C | Alliance | Hyperphenylalaninemia, BH4-deficient, C | 261630 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | NAD(P)-binding domain superfamily | Short-chain dehydrogenase/reductase, conserved site | Short-chain dehydrogenase/reductase SDR |
|---|---|---|---|---|
|
UniProtKB:A7YT77
|
237 |
Interactions and Pathways
No data available
Plasmids
No data available