SPR

GENE INFORMATION

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Gene name

SPR (HGNC Symbol)

Synonyms

SDR38C1

Description

sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) (HGNC Symbol)

Entrez gene summary

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]

Chromosome

2 (Chromosome progress)

Cytoband

p13.2

Chromosome location (bp)

73114489 - 73119287

Ensembl

ENSG00000116096 (version 73.37)

Entrez gene

6697

UniProt

P35270 (UniProt - Evidence at protein level)

neXtProt

NX_P35270

Antibodypedia

SPR antibodies
 

PROTEIN VIEW

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SPR-001
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

SPR-001 ENSP00000234454
ENST00000234454
P35270
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