SPR, sepiapterin reductase

SPR, sepiapterin reductase

• 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]

• Gene Synonyms (sepiapterin reductase, Sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming), sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase), short chain dehydrogenase/reductase family 38C, member 1, SDR38C1,)
• NCBI Gene ID: 6697
• Species: Homo sapiens (Human)
• UNIPROT ID#>>P35270
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

sepiapterin reductase interacts with:

• AAR2 splicing factor
  abhydrolase domain containing 11
  adenosylhomocysteinase like 1
  chloride intracellular channel 4
  cytidine/uridine monophosphate kinase 1
  cytochrome c oxidase copper chaperone COX17
  destrin, actin depolymerizing factor
  DNA polymerase delta interacting protein 2
  elongation factor Tu GTP binding domain containing 2
  elongin C
  far upstream element binding protein 1
  glutamine amidotransferase like class 1 domain containing 3A
  glutaredoxin 5
  glyoxylate and hydroxypyruvate reductase
  histidine triad nucleotide binding protein 2
  kynureninase
  lactamase beta 2
  leucine aminopeptidase 3
  lysophospholipase 2
  mitochondrial ribosomal protein L53
  myotrophin
  neudesin neurotrophic factor
  Parkinsonism associated deglycase
  peptidase, mitochondrial processing subunit alpha
  peptidyl-tRNA hydrolase domain containing 1
  peroxiredoxin 2
  peroxiredoxin 5
  peroxiredoxin 6
  PIH1 domain containing 1
  programmed cell death 6 interacting protein
  SBDS ribosome maturation factor
  SRP receptor subunit beta
  SURP and G-patch domain containing 1
  synthesis of cytochrome C oxidase 2
  transgelin 2
  transketolase
  tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein theta
  ubiquitin C-terminal hydrolase L1
  ubiquitin fold modifier 1
  ubiquitin-fold modifier conjugating enzyme 1
  YKT6 v-SNARE homolog

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.