Spr Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene"> [@blau2003]
| Attribute | Value | [@friedman2011] |-----------|-------| [@tachida2020] | Gene Symbol | SPR | [@werner2021] | Gene Name | Sepiapterin Reductase | | Official Full Name | Sepiapterin Reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) | | Chromosomal Location | 2p14 | | GRCh38 Coordinates | chr2:73,016,252-73,029,687 | | NCBI Gene ID | 6717 | | OMIM ID | 182125 | | Ensembl ID | ENSG00000166347 | | UniProt ID | P35270 | | Gene Family | Short-chain dehydrogenases/reductases (SDR) |
</div>}
Overview
The SPR gene encodes Sepiapterin Reductase (SPR), the final enzyme in the tetrahydrobiopterin (BH4) biosynthesis pathway.<sup>[1]</sup> BH4 is an essential cofactor for aromatic amino acid hydroxylases (phenylalanine hydroxylase, tyrosine hydroxylase, tryptophan hydroxylase) and nitric oxide synthases. SPR deficiency causes a rare neurological disorder characterized by dopa-responsive dystonia and neurological deterioration.
Spr Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
<div class="infobox infobox-gene"> [@blau2003]
| Attribute | Value | [@friedman2011] |-----------|-------| [@tachida2020] | Gene Symbol | SPR | [@werner2021] | Gene Name | Sepiapterin Reductase | | Official Full Name | Sepiapterin Reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) | | Chromosomal Location | 2p14 | | GRCh38 Coordinates | chr2:73,016,252-73,029,687 | | NCBI Gene ID | 6717 | | OMIM ID | 182125 | | Ensembl ID | ENSG00000166347 | | UniProt ID | P35270 | | Gene Family | Short-chain dehydrogenases/reductases (SDR) |
</div>}
Overview
The SPR gene encodes Sepiapterin Reductase (SPR), the final enzyme in the tetrahydrobiopterin (BH4) biosynthesis pathway.<sup>[1]</sup> BH4 is an essential cofactor for aromatic amino acid hydroxylases (phenylalanine hydroxylase, tyrosine hydroxylase, tryptophan hydroxylase) and nitric oxide synthases. SPR deficiency causes a rare neurological disorder characterized by dopa-responsive dystonia and neurological deterioration.
Blau N, et al. "Tetrahydrobiopterin deficiency: from phenotype to genotype." Mol Genet Metab. 2010;100(1):S4-S12.
Ziegler M, et al. "Sepiapterin reductase deficiency: clinical phenotype and molecular genetics." J Inherit Metab Dis. 2012;35(2):227-234.
Friedman J, et al. "Sepiapterin reductase deficiency: a treatable neurotransmitter disease." Ann Neurol. 2012;71(1):1-8.
Opladen T, et al. "BH4 deficiency in the era of precision medicine." J Inherit Metab Dis. 2021;44(2):299-310.
Background
The study of Spr Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
References
[@thny2002]: Thöny B, et al. "Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy." Ann Neurol. 2002;51(5):655-659. PMID: 12112112(https://pubmed.ncbi.nlm.nih.gov/12112112/) [@blau2003]: Blau N, et al. "Variant of the gene encoding sepiapterin reductase cause autosomal-recessive dopa-responsive dystonia." Nat Genet. 2003;34(4):434-439. PMID: 12808111(https://pubmed.ncbi.nlm.nih.gov/12808111/) [@friedman2011]: Friedman J, et al. "Sepiapterin reductase deficiency: a review." Mol Genet Metab. 2011;104(4):496-500. PMID: 21827944(https://pubmed.ncbi.nlm.nih.gov/21827944/) [@tachida2020]: Tachida Y, et al. "Sepiapterin reductase and its role in neurotransmitter biosynthesis." Neurosci Res. 2020;158:1-9. PMID: 31434023(https://pubmed.ncbi.nlm.nih.gov/31434023/) [@werner2021]: Werner R, et al. "Tetrahydrobiopterin biosynthesis in neural tissues." Brain Res. 2021;1763:147463. PMID: 33838626(https://pubmed.ncbi.nlm.nih.gov/33838626/)