SPR sepiapterin reductase
Gene ID: 6697, updated on 11-Apr-2024Gene type: protein coding
Also known as: SDR38C1
- See all available tests in GTR for this gene
- Go to complete Gene record for SPR
- Go to Variation Viewer for SPR variants
Summary
This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008]
Associated conditions
Genomic context
- Location:
- 2p13.2
- Sequence:
- Chromosome: 2; NC_000002.12 (72887408..72892158)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SPR 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
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SPR database
- Variation ViewerRelated Variants
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