Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6697
MIM: 182125
HGNC: 11257
Ensembl: ENSG00000116096
Variants:
dbSNP: 6697
ClinVar: 6697
TCGA: ENSG00000116096
COSMIC: SPR
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000116096 | ENST00000234454 | P35270 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33903016 | 2021 | Molecular and metabolic bases of tetrahydrobiopterin (BH(4)) deficiencies. | 19 |
| 33903016 | 2021 | Molecular and metabolic bases of tetrahydrobiopterin (BH(4)) deficiencies. | 19 |
| 27613114 | 2016 | Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR. | 6 |
| 27613114 | 2016 | Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR. | 6 |
| 26093909 | 2015 | Effect of sulfasalazine on human neuroblastoma: analysis of sepiapterin reductase (SPR) as a new therapeutic target. | 9 |
| 26093909 | 2015 | Effect of sulfasalazine on human neuroblastoma: analysis of sepiapterin reductase (SPR) as a new therapeutic target. | 9 |
| 24096079 | 2014 | Novel interaction of ornithine decarboxylase with sepiapterin reductase regulates neuroblastoma cell proliferation. | 18 |
| 24588500 | 2014 | Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. | 16 |
| 24096079 | 2014 | Novel interaction of ornithine decarboxylase with sepiapterin reductase regulates neuroblastoma cell proliferation. | 18 |
| 24588500 | 2014 | Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. | 16 |
| 23640889 | 2013 | Sepiapterin reductase mediates chemical redox cycling in lung epithelial cells. | 13 |
| 23640889 | 2013 | Sepiapterin reductase mediates chemical redox cycling in lung epithelial cells. | 13 |
| 22018912 | 2012 | A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood. | 5 |
| 22018912 | 2012 | A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood. | 5 |
| 20038947 | 2011 | Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. | 0 |
Citation
Dessen P
SPR (sepiapterin reductase)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56366/spr-(sepiapterin-reductase)
