Gene: SPR

Alternate names for this Gene: SDR38C1

Gene 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.

Gene is located in Chromosome: 2

Location in Chromosome : 2p13.2

Description of this Gene: sepiapterin reductase

Type of Gene: protein-coding

rs6730083 in SPR gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1876487 in SPR gene and Diastolic blood pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs104893665 in SPR gene and Dystonia PMID 23430877 2012 Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy.

PMID 11443547 2001 Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

PMID 21431957 2011 Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant.

PMID 21677200 2011 Whole-genome sequencing for optimized patient management.

PMID 24212389 2013 Very early pattern of movement disorders in sepiapterin reductase deficiency.

PMID 16917893 2006 Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.

rs104893665 in SPR gene and Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency PMID 17159114 2006 Dopa-responsive hypersomnia and mixed movement disorder due to sepiapterin reductase deficiency.

PMID 16650784 2006 Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.

PMID 11443547 2001 Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.

PMID 16049044 2005 Sepiapterin reductase deficiency: a congenital dopa-responsive motor and cognitive disorder.

PMID 22522443 2012 Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.