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MGP002964

Record overview

MGPD IDMGP002964
Gene ID6697
SpeciesHomo sapiens (Human)
Gene Namesepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
Gene Symbol SPR
SynonymsSDR38C1;
Alternate namessepiapterin reductase; short chain dehydrogenase/reductase family 38C, member 1;
Chromosome2
Map Location2p14-p12
EC Number1.1.1.153;
SummaryThis 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]
OrthologsView orthologs and multiple alignments for SPR

Proteins

sepiapterin reductase
Refseq ID:NP_003115
Protein GI:4507185
UniProt ID:P35270
mRNA ID:NM_003124
Length:261
RefSeq Status:
MEGGLGRAVCLLTGASRGFGRTLAPLLASLLSPGSVLVLSARNDEALRQLEAELGAERSGLRVVRVPADLGAEAGLQQLLGALRELPRPKGLQRLLLINN
AGSLGDVSKGFVDLSDSTQVNNYWALNLTSMLCLTSSVLKAFPDSPGLNRTVVNISSLCALQPFKGWALYCAGKAARDMLFQVLALEEPNVRVLNYAPGP
LDTDMQQLARETSVDPDMRKGLQELKAKGKLVDCKVSAQKLLSLLEKDEFKSGAHVDFYDK
 
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