Sepiapterin Reductase

Alternative Names

Length

4,751 bases

No. of Exons

No. of isoforms

Protein Name

Sepiapterin reductase

Molecular Mass

28048 Da

Amino Acid Count

261

Genomic Location

chr2:72,887,407-72,892,157

Gene Map Locus

2p13.2

Description

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. [From RefSeq]

Epidemiology in the Arab World

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Lebanon

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_003124.5:c.260C>A	Lebanon	NC_000002.12:g.72887692C>A		Likely Pathogenic	Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency	NG_008234.1:g.5310C>A; NM_003124.5:c.260C>A; NP_003115.1:p.Pro87His

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External Links

https://medlineplus.gov/genetics/gene/spr/ https://www.genecards.org/cgi-bin/carddisp.pl?gene=SPR https://www.ncbi.nlm.nih.gov/gene/6697

Contributors

Pratibha Nair: 13.12.2020

Edit History

Pratibha Nair: 13.12.2020

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