Gene
qdprb.1
- ID
- ZDB-GENE-050522-320
- Name
- quinoid dihydropteridine reductase b, tandem duplicate 1
- Symbol
- qdprb.1 Nomenclature History
- Previous Names
-
- qdprb1
- si:dkey-92j12.1
- wu:fj24b09
- zgc:101857
- zgc:112405
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Enables 6,7-dihydropteridine reductase activity. Acts upstream of or within brain development; gliogenesis; and glutamine metabolic process. Predicted to be active in cytoplasm. Is expressed in ciliary marginal zone; eye; midbrain hindbrain boundary; optic tectum; and retina. 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
- 3 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:101857 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 7 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-dependent epimerase/dehydratase | NAD(P)-binding domain superfamily |
|---|---|---|---|
|
UniProtKB:Q66IB5
|
239 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
qdprb1-201
(1)
|
Ensembl | 1,025 nt | ||
| ncRNA |
qdprb1-002
(1)
|
Ensembl | 912 nt |
Interactions and Pathways
No data available
Plasmids
No data available