AlphaFold predicted structure
PDP1 · Q9P0J1
Mean pLDDT
83.8/ 100
Confident
537 residues
Confidence breakdown
- Very high(≥ 90)68%
- Confident(70–90)12%
- Low(50–70)5%
- Very low(< 50)14%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
PDP1
Chr 8q22.1pyruvate dehydrogenase phosphatase catalytic subunit 1
- Aliases:
- PDP, PDH, PPM2A
- MANE:
- ENST00000297598.5
Annotations refreshed 10 hours ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalPyruvate dehydrogenase (PDH) deficiency
BIALLELIC, autosomal or pseudoautosomalStructural basal ganglia disorders
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalAdult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
pyruvate dehydrogenase phosphatase deficiency
0.77COVID-19
0.28neurodegenerative disease
0.27hereditary disease
0.19multinodular goiter
0.19alcohol drinking
0.17neoplasm
0.11breast cancer
0.10acute myeloid leukemia
0.08hepatocellular carcinoma
0.08
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Polyisoprenoid diphosphate/phosphate phosphohydrolase PLPP6
Magnesium-independent polyisoprenoid diphosphatase that catalyzes the sequential dephosphorylation of presqualene, farnesyl, geranyl and geranylgeranyl diphosphates (PubMed:16464866, PubMed:19220020, PubMed:20110354). Functions in the innate immune response through the dephosphorylation of presqualene diphosphate which acts as a potent inhibitor of the signaling pathways contributing to polymorphonuclear neutrophils activation (PubMed:16464866, PubMed:23568778). May regulate the biosynthesis of cholesterol and related sterols by dephosphorylating presqualene and farnesyl diphosphate, two key intermediates in this biosynthetic pathway (PubMed:20110354). May also play a role in protein prenylation by acting on farnesyl diphosphate and its derivative geranylgeranyl diphosphate, two precursors for the addition of isoprenoid anchors to membrane proteins (PubMed:20110354). Has a lower activity towards phosphatidic acid (PA), but through phosphatidic acid dephosphorylation may participate in the biosynthesis of phospholipids and triacylglycerols (PubMed:18930839). May also act on ceramide-1-P, lysophosphatidic acid (LPA) and sphing-4-enine 1-phosphate/sphingosine-1-phosphate (PubMed:18930839, PubMed:20110354)