PDPR Chromosome 16

Pyruvate dehydrogenase phosphatase regulatory subunit
1 variant 1 Health Risk

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What This Gene Does
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. [provided by RefSeq, Jan 2017]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000090857
Associated Conditions (1)
Joubert syndrome
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS202246074 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome
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