SPR
From SNPedia
| is a | gene |
| is | mentioned by |
| Full name | sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) |
| Other names | SR |
| EntrezGene | 6697 |
| PheGenI | 6697 |
| VariationViewer | 6697 |
| ClinVar | SPR |
| GeneCards | SPR |
| dbSNP | 6697 |
| Diseases | SPR |
| SADR | 6697 |
| HugeNav | 6697 |
| wikipedia | SPR |
| SPR | |
| gopubmed | SPR |
| EVS | SPR |
| HEFalMp | SPR |
| MyGene2 | SPR |
| 23andMe | SPR |
| UniProt | P35270 |
| Ensembl | ENSG00000116096 |
| OMIM | 182125 |
| # SNPs | 12 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs104893665 | 3 | 72,888,457 | |
| rs104893666 | 3 | 72,888,497 | |
| rs121917746 | 3 | 72,888,364 | |
| rs121917747 | 3 | 72,891,502 | |
| rs146349901 | 0 | 72,888,378 | |
| rs1876487 | 0 | 72,887,223 | |
| rs2421095 | 0 | 72,886,395 | |
| rs387907200 | 3 | 72,887,736 | |
| rs398122922 | 3 | 72,891,345 | |
| rs587776777 | 3 | 72,888,457 | |
| rs750423023 | 0 | 72,887,420 | |
| rs779204655 | 0 | 72,891,406 |
Located on chromosome 2, the SPR gene encodes sepiapterin reductase, one of a group of enzymes called aldo-keto reductases. SPR plays an important role in the biosynthesis of tetrahydrobiopterin.Wikipedia
Recessively inherited mutations in the SPR gene may lead to sepiapterin reductase deficiency, also known as SPR deficiency.
