Pyruvate Dehydrogenase Phosphatase Regulatory Subunit

Alternative Names

  • PDPR
  • KIAA1990

Associated Diseases

Joubert Syndrome 1
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OMIM Number

617835

NCBI Gene ID

55066

Uniprot ID

Q8NCN5

Length

49,802 bases

No. of Exons

23

No. of isoforms

2

Protein Name

Pyruvate dehydrogenase phosphatase regulatory subunit, mitochondrial

Molecular Mass

99364 Da

Amino Acid Count

879

Genomic Location

chr16:70,113,626-70,163,427

Gene Map Locus
16q22.1

Description

Pyruvate dehydrogenase complex (PDC) catalyzes the oxidative decarboxylation of pyruvate and links glycolysis to the tricarboxylic acid cycle and fatty acid synthesis. The dephosphorylation and reactivation of PDC is catalyzed by pyruvate dehydrogenase phosphatase (PDP). The dimeric PDP has a catalytic subunit and a regulatory subunit. This gene encodes the FAD-containing regulatory subunit of PDP. The encoded protein acts to decrease the sensitivity of the PDP catalytic subunit to magnesium ions. Alternative splicing results in multiple transcript variants encoding different isoforms. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_017990.5:c.1360G>TSaudi ArabiaNC_000016.10:g.70142278G>TLikely Benign, Uncertain SignificanceLikely PathogenicJoubert Syndrome 1NG_052842.1:g.33653G>T; NM_017990.5:c.1360G>T; NP_060460.4:p.Gly454Cys202246074183316
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