Quinoid Dihydropteridine Reductase

Alternative Names

  • QDPR
  • Dihydropteridine Reductase
  • DHPR
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OMIM Number

612676

NCBI Gene ID

5860

Uniprot ID

P09417

Length

51,974 bases

No. of Exons

7

No. of isoforms

2

Protein Name

Dihydropteridine reductase

Molecular Mass

25790 Da

Amino Acid Count

244

Genomic Location

chr4:17,460,261-17,512,234

Gene Map Locus
4p15.32

Description

This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions, insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000320.3:c.49G>CUnited Arab EmiratesNC_000004.12:g.17512006C>GLikely Pathogenic, Uncertain SignificanceLikely PathogenicHyperphenylalaninemia, BH4-Deficient, CNG_008763.1:g.5229G>C; NM_000320.3:c.49G>C; NP_000311.2:p.Gly17Arg757483045623325
NM_000320.3:c.643T>CLebanonchr4:17487223Likely PathogenicHyperphenylalaninemia, BH4-Deficient, CNG_008763.1:g.30014T>C; NM_000320.3:c.643T>C; NP_000311.2:p.Trp215Arg
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