Supplementary Material Metabolic Pathways and Immunometabolism in Rare Diseases Grayson et al, 2017

Symbol Description Pathway G6PD -6-phosphate Pentose Phosphate Pathway PGLS 6-phosphogluconolactonase Pentose Phosphate Pathway PGD phosphogluconate dehydrogenase Pentose Phosphate Pathway RPE ribulose-5-phosphate-3-epimerase Pentose Phosphate Pathway RPIA ribose 5-phosphate A Pentose Phosphate Pathway TKT transketolase Pentose Phosphate Pathway TALDO1 transaldolase 1 Pentose Phosphate Pathway ALDOA aldolase, -bisphosphate A ALDOB aldolase, fructose-bisphosphate B Glycolysis ALDOC aldolase, fructose-bisphosphate C Glycolysis ENO1 1 Glycolysis ENO2 Glycolysis ENO3 enolase 3 Glycolysis GAPDH glyceraldehyde-3-phosphate dehydrogenase Glycolysis GCK Glycolysis GPI glucose-6-phosphate isomerase Glycolysis HK1 1 Glycolysis HK2 hexokinase 2 Glycolysis HK3 hexokinase 3 Glycolysis PFKFB1 6-phosphofructo-2-/fructose-2,6-biphosphatase 1 Glycolysis PFKFB2 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 Glycolysis PFKFB3 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 Glycolysis PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 Glycolysis PFKP , Glycolysis PFKM phosphofructokinase, muscle Glycolysis PGAM2 2 Glycolysis PGK1 1 Glycolysis PGK2 phosphoglycerate kinase 2 Glycolysis PGM1 phosphoglucomutase 1 Glycolysis PGM3 phosphoglucomutase 3 Glycolysis PKLR , and RBC Glycolysis PKM pyruvate kinase, muscle Glycolysis SOD1 dismutase 1, soluble Glycolysis SOD2 2, mitochondrial Glycolysis SOD3 superoxide dismutase 3, extracellular Glycolysis TPI1 triosephosphate isomerase 1 Glycolysis SLC2A1 solute carrier family 2 member 1 glucose transporters SLC2A2 solute carrier family 2 member 2 glucose transporters SLC2A3 solute carrier family 2 member 3 glucose transporters SLC2A4 solute carrier family 2 member 4 glucose transporters ACLY ATP citrate TCA cycle ACO1 1 TCA cycle ACO2 aconitase 2 TCA cycle DLAT dihydrolipoamide S-acetyltransferase TCA cycle DLD dihydrolipoamide dehydrogenase TCA cycle DLST dihydrolipoamide S-succinyltransferase TCA cycle FH fumarate hydratase TCA cycle IDH1 (NADP(+)) 1, cytosolic TCA cycle IDH2 isocitrate dehydrogenase (NADP(+)) 2, mitochondrial TCA cycle IDH3A isocitrate dehydrogenase 3 (NAD(+)) alpha TCA cycle IDH3B isocitrate dehydrogenase 3 (NAD(+)) beta TCA cycle IDH3G isocitrate dehydrogenase 3 (NAD(+)) gamma TCA cycle MDH1 1 TCA cycle MDH2 malate dehydrogenase 2 TCA cycle OGDHL oxoglutarate dehydrogenase-like TCA cycle OGDH oxoglutarate dehydrogenase TCA cycle PC TCA cycle PCK1 phosphoenolpyruvate carboxykinase 1 TCA cycle PCK2 phosphoenolpyruvate carboxykinase 2, mitochondrial TCA cycle PDHA1 (lipoamide) alpha 1 TCA cycle PDHA2 pyruvate dehydrogenase (lipoamide) alpha 2 TCA cycle PDHB pyruvate dehydrogenase (lipoamide) beta TCA cycle PDK1 pyruvate dehydrogenase kinase 1 TCA cycle PDK2 pyruvate dehydrogenase kinase 2 TCA cycle PDK3 pyruvate dehydrogenase kinase 3 TCA cycle PDK4 pyruvate dehydrogenase kinase 4 TCA cycle PDPR pyruvate dehydrogenase phosphatase regulatory subunit TCA cycle SDHAF1 complex assembly factor 1 TCA cycle SDHAF3 succinate dehydrogenase complex assembly factor 3 TCA cycle SDHB succinate dehydrogenase complex sulfur subunit B TCA cycle SDHD succinate dehydrogenase complex subunit D TCA cycle SUCLA2 succinate-CoA ADP-forming beta subunit TCA cycle SUCLG1 succinate-CoA ligase alpha subunit TCA cycle SUCLG2 succinate-CoA ligase GDP-forming beta subunit TCA cycle GLS GLS2 glutaminase 2 Glutaminolysis GLUD1 1 Glutaminolysis GLUD2 glutamate dehydrogenase 2 Glutaminolysis OGDH oxoglutarate dehydrogenase Glutaminolysis GOT1 glutamic-oxaloacetic transaminase 1 Glutaminolysis ACSL3 acyl-CoA synthetase long-chain family member 3 Oxidation CPT1A carnitine palmitoyltransferase 1A Fatty Acid Oxidation SLC25A20 solute carrier family 25 member 20 Fatty Acid Oxidation CPT2 carnitine palmitoyltransferase 2 Fatty Acid Oxidation ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain Fatty Acid Oxidation ECHS1 enoyl-CoA hydratase, short chain, 1, mitochondrial Fatty Acid Oxidation HADH hydroxyacyl-CoA dehydrogenase Fatty Acid Oxidation HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoAFatty Acid hydratase Oxidation (trifunctional ), beta subunit CD3D CD3d molecule Immune Subset Markers CD4 CD4 molecule Immune Subset Markers CD8A CD8a molecule Immune Subset Markers CCR5 C-C motif chemokine receptor 5 (/) Immune Subset Markers CXCR3 C-X-C motif chemokine receptor 3 Immune Subset Markers IFNG interferon, gamma Immune Subset Markers CCR3 C-C motif chemokine receptor 3 Immune Subset Markers IL13 interleukin 13 Immune Subset Markers CCR6 C-C motif chemokine receptor 6 Immune Subset Markers CCR4 C-C motif chemokine receptor 4 Immune Subset Markers IL17B interleukin 17B Immune Subset Markers IL21 interleukin 21 Immune Subset Markers IL23A interleukin 23 subunit alpha Immune Subset Markers FOXP3 forkhead box P3 Immune Subset Markers IL10 interleukin 10 Immune Subset Markers CD19 CD19 molecule Immune Subset Markers SDC1 syndecan 1 Immune Subset Markers CD14 CD14 molecule Immune Subset Markers CD68 CD68 molecule Immune Subset Markers CD163 CD163 molecule Immune Subset Markers IL1B interleukin 1 beta Immune Subset Markers IL1A interleukin 1 alpha Immune Subset Markers TNF Immune Subset Markers IL6 interleukin 6 Immune Subset Markers MPO myeloperoxidase Immune Subset Markers