Entrez Gene ID | 55066 |
---|---|
Official Gene Symbol | PDPR (GeneCards) |
Full name | pyruvate dehydrogenase phosphatase regulatory subunit |
Location | 16q22.1 |
Other ids | Vega : OTTHUMG00000176963 MIM : 617835 HGNC : HGNC:30264 Ensembl : ENSG00000090857 |
Other names | PDP3 |
Summary | 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] |
Found 4 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
1494 | 55066 | PDPR | 16 | 70190680 | 70190680 | Autism Spectrum Disorders | NextSeq500 v2 |
29504 | 55066 | PDPR | 16 | 70190680 | 70190680 | Autism Spectrum Disorders | NextSeq500 v2 MiSeq |
29530 | 55066 | PDPR | 16 | 70176549 | 70176549 | Autism Spectrum Disorders | NextSeq500 v2 MiSeq |
29897 | 55066 | PDPR | 16 | 70190680 | 70190680 | Autism Spectrum Disorders | NextSeq500 v2 MiSeq NextSeq500 |