PDPR
pyruvate dehydrogenase phosphatase regulatory subunit
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]
Known Variants68 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs183692602 | 16:70,145,819 | G/C | upstream gene variant | — |
| rs2549289 | 16:70,150,218 | A/G | intron variant | — |
| rs2911050 | 16:70,150,504 | G/C | intron variant | — |
| rs373029249 | 16:70,154,477 | A/G | — | uncertain significance |
| rs200469748 | 16:70,154,480 | A/G | — | not provided |
| rs199750793 | 16:70,154,519 | C/G | — | likely benign |
| rs749223505 | 16:70,154,571 | A/C | — | uncertain significance |
| rs759384966 | 16:70,161,179 | A/G | — | uncertain significance |
| rs1282585999 | 16:70,161,185 | T/C | — | uncertain significance |
| rs2549532 | 16:70,161,263 | T/C | — | benign |
| rs534844872 | 16:70,162,750 | G/A | — | uncertain significance |
| rs761186713 | 16:70,162,867 | T/C | — | uncertain significance |
| rs371969896 | 16:70,162,911 | C/T | — | uncertain significance |
| rs752154255 | 16:70,162,935 | G/T | — | uncertain significance |
| rs370077405 | 16:70,162,941 | G/C | — | uncertain significance |
| rs369297667 | 16:70,162,962 | G/C | — | uncertain significance |
| rs747171735 | 16:70,163,011 | C/G | — | uncertain significance |
| rs765253822 | 16:70,164,343 | C/T | — | uncertain significance |
| rs1477198691 | 16:70,164,389 | G/C | — | uncertain significance |
| rs1290190996 | 16:70,165,214 | G/A | — | uncertain significance |
| rs1358192500 | 16:70,165,257 | A/G | — | uncertain significance |
| rs774777628 | 16:70,166,058 | T/C | — | likely benign |
| rs753276360 | 16:70,166,087 | G/A | — | uncertain significance |
| rs201788790 | 16:70,166,090 | A/C | — | uncertain significance |
| rs763815756 | 16:70,166,163 | G/T | — | uncertain significance |
| rs62050967 | 16:70,168,404 | C/A | intron variant | — |
| rs562559654 | 16:70,170,158 | G/C | — | uncertain significance |
| rs150049130 | 16:70,170,185 | A/T | — | likely benign |
| rs59034887 | 16:70,170,222 | G/T | — | benign |
| rs2548744871 | 16:70,170,226 | A/G | — | uncertain significance |
| rs531928747 | 16:70,170,237 | G/A | — | uncertain significance |
| rs778480370 | 16:70,172,845 | G/A | — | uncertain significance |
| rs745526629 | 16:70,172,866 | C/T | — | uncertain significance |
| rs1294827495 | 16:70,172,885 | G/A | — | uncertain significance |
| rs1484963375 | 16:70,172,899 | C/G | — | uncertain significance |
| rs765578219 | 16:70,172,908 | C/T | — | uncertain significance |
| rs1162836450 | 16:70,172,911 | G/A | — | uncertain significance |
| rs775701791 | 16:70,172,915 | T/C | — | uncertain significance |
| rs2911107 | 16:70,175,249 | G/A | intron variant | — |
| rs202246074 | 16:70,176,181 | G/T | missense variant | uncertain significance |
| rs772430217 | 16:70,176,200 | C/G | — | uncertain significance |
| rs765945278 | 16:70,176,205 | C/G | — | uncertain significance |
| rs373152246 | 16:70,176,223 | G/T | — | uncertain significance |
| rs751709287 | 16:70,176,534 | G/A | — | uncertain significance |
| rs1226203752 | 16:70,177,446 | T/C | — | uncertain significance |
| rs1435812929 | 16:70,177,488 | G/C | — | uncertain significance |
| rs369641860 | 16:70,177,497 | G/A | — | uncertain significance |
| rs779838777 | 16:70,177,513 | G/A | — | uncertain significance |
| rs150239000 | 16:70,179,281 | C/G | intron variant | — |
| rs1165584090 | 16:70,180,069 | G/A | — | uncertain significance |
| rs780664823 | 16:70,180,079 | A/C | — | uncertain significance |
| rs2287978 | 16:70,180,088 | A/G | missense variant | — |
| rs2548785590 | 16:70,180,093 | C/G | — | uncertain significance |
| rs774362655 | 16:70,180,096 | A/G | — | uncertain significance |
| rs367798186 | 16:70,182,398 | G/A | — | uncertain significance |
| rs780006315 | 16:70,187,319 | T/C | — | uncertain significance |
| rs766263682 | 16:70,187,382 | G/A | — | uncertain significance |
| rs115817341 | 16:70,190,372 | T/C | — | benign |
| rs376953718 | 16:70,190,396 | C/T | — | uncertain significance |
| rs201562825 | 16:70,190,462 | G/A | — | uncertain significance |
| rs117263218 | 16:70,190,514 | G/A | — | likely benign |
| rs201033817 | 16:70,190,543 | A/G | — | uncertain significance |
| rs1227672793 | 16:70,190,565 | T/G | — | uncertain significance |
| rs141395281 | 16:70,190,570 | C/T | — | likely benign |
| rs376113956 | 16:70,190,651 | C/T | — | uncertain significance |
| rs374296141 | 16:70,190,682 | A/G | — | uncertain significance |
| rs111255549 | 16:70,190,684 | C/A | — | uncertain significance |
| rs62051658 | 16:70,194,664 | G/A | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.