Genes

Explore the normal functions of human genes and the health implications of genetic changes.

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  • P3H1: prolyl 3-hydroxylase 1
  • PABPN1: poly(A) binding protein nuclear 1
  • PADI3: peptidyl arginine deiminase 3
  • PAFAH1B1: platelet activating factor acetylhydrolase 1b regulatory subunit 1
  • PAH: phenylalanine hydroxylase
  • PANK2: pantothenate kinase 2
  • PARK7: Parkinsonism associated deglycase
  • PAX2: paired box 2
  • PAX3: paired box 3
  • PAX6: paired box 6
  • PAX8: paired box 8
  • PC: pyruvate carboxylase
  • PCBD1: pterin-4 alpha-carbinolamine dehydratase 1
  • PCCA: propionyl-CoA carboxylase alpha subunit
  • PCCB: propionyl-CoA carboxylase beta subunit
  • PCNT: pericentrin
  • PCSK9: proprotein convertase subtilisin/kexin type 9
  • PDCD10: programmed cell death 10
  • PDE6B: phosphodiesterase 6B
  • PDE6C: phosphodiesterase 6C
  • PDE6H: phosphodiesterase 6H
  • PDGFB: platelet derived growth factor subunit B
  • PDGFRA: platelet derived growth factor receptor alpha
  • PDGFRB: platelet derived growth factor receptor beta
  • PDHA1: pyruvate dehydrogenase E1 alpha 1 subunit
  • PDHB: pyruvate dehydrogenase E1 beta subunit
  • PDHX: pyruvate dehydrogenase complex component X
  • PDP1: pyruvate dehydrogenase phosphatase catalytic subunit 1
  • PEPD: peptidase D
  • PEX1: peroxisomal biogenesis factor 1
  • PEX7: peroxisomal biogenesis factor 7
  • PFKM: phosphofructokinase, muscle
  • PGAM2: phosphoglycerate mutase 2
  • PGAP2: post-GPI attachment to proteins 2
  • PGK1: phosphoglycerate kinase 1
  • PHEX: phosphate regulating endopeptidase homolog X-linked
  • PHF8: PHD finger protein 8
  • PHF21A: PHD finger protein 21A
  • PHGDH: phosphoglycerate dehydrogenase
  • PHKA1: phosphorylase kinase regulatory subunit alpha 1
  • PHKA2: phosphorylase kinase regulatory subunit alpha 2
  • PHKB: phosphorylase kinase regulatory subunit beta
  • PHKG2: phosphorylase kinase catalytic subunit gamma 2
  • PHOX2A: paired like homeobox 2a
  • PHOX2B: paired like homeobox 2b
  • PHYH: phytanoyl-CoA 2-hydroxylase
  • PIGA: phosphatidylinositol glycan anchor biosynthesis class A
  • PIGO: phosphatidylinositol glycan anchor biosynthesis class O
  • PIGV: phosphatidylinositol glycan anchor biosynthesis class V
  • PIK3CA: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
  • PIK3CD: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
  • PIK3R1: phosphoinositide-3-kinase regulatory subunit 1
  • PIK3R2: phosphoinositide-3-kinase regulatory subunit 2
  • PINK1: PTEN induced putative kinase 1
  • PITX1: paired like homeodomain 1
  • PITX2: paired like homeodomain 2
  • PKD1: polycystin 1, transient receptor potential channel interacting
  • PKD2: polycystin 2, transient receptor potential cation channel
  • PKHD1: PKHD1, fibrocystin/polyductin
  • PKLR: pyruvate kinase L/R
  • PKP2: plakophilin 2
  • PLA2G6: phospholipase A2 group VI
  • PLAGL1: PLAG1 like zinc finger 1
  • PLCB4: phospholipase C beta 4
  • PLEC: plectin
  • PLG: plasminogen
  • PLOD1: procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
  • PLP1: proteolipid protein 1
  • PML: promyelocytic leukemia
  • PMM2: phosphomannomutase 2
  • PMP22: peripheral myelin protein 22
  • PMS2: PMS1 homolog 2, mismatch repair system component
  • PNKD: paroxysmal nonkinesigenic dyskinesia
  • PNP: purine nucleoside phosphorylase
  • PNPLA2: patatin like phospholipase domain containing 2
  • PNPLA3: patatin like phospholipase domain containing 3
  • PNPLA6: patatin like phospholipase domain containing 6
  • PNPO: pyridoxamine 5'-phosphate oxidase
  • POFUT1: protein O-fucosyltransferase 1
  • POGLUT1: protein O-glucosyltransferase 1
  • POGZ: pogo transposable element derived with ZNF domain
  • POLG: DNA polymerase gamma, catalytic subunit
  • POLH: DNA polymerase eta
  • POLR1C: RNA polymerase I subunit C
  • POLR1D: RNA polymerase I subunit D
  • POLR3A: RNA polymerase III subunit A
  • POLR3B: RNA polymerase III subunit B
  • POMC: proopiomelanocortin
  • POMT1: protein O-mannosyltransferase 1
  • POMT2: protein O-mannosyltransferase 2
  • POR: cytochrome p450 oxidoreductase
  • PORCN: porcupine O-acyltransferase
  • POU3F4: POU class 3 homeobox 4
  • PPOX: protoporphyrinogen oxidase
  • PPP2R5D: protein phosphatase 2 regulatory subunit B'delta
  • PPT1: palmitoyl-protein thioesterase 1
  • PQBP1: polyglutamine binding protein 1
  • PRF1: perforin 1
  • PRICKLE1: prickle planar cell polarity protein 1
  • PRKAG2: protein kinase AMP-activated non-catalytic subunit gamma 2
  • PRKAR1A: protein kinase cAMP-dependent type I regulatory subunit alpha
  • PRKN: parkin RBR E3 ubiquitin protein ligase
  • PRNP: prion protein
  • PROC: protein C, inactivator of coagulation factors Va and VIIIa
  • PRODH: proline dehydrogenase 1
  • PROK2: prokineticin 2
  • PROKR2: prokineticin receptor 2
  • PROP1: PROP paired-like homeobox 1
  • PROS1: protein S
  • PRPH2: peripherin 2
  • PRPS1: phosphoribosyl pyrophosphate synthetase 1
  • PRRT2: proline rich transmembrane protein 2
  • PRSS1: protease, serine 1
  • PRX: periaxin
  • PSAP: prosaposin
  • PSEN1: presenilin 1
  • PSEN2: presenilin 2
  • PSENEN: presenilin enhancer gamma-secretase subunit
  • PSMB8: proteasome subunit beta 8
  • PTCH1: patched 1
  • PTEN: phosphatase and tensin homolog
  • PTPN11: protein tyrosine phosphatase, non-receptor type 11
  • PTPN22: protein tyrosine phosphatase, non-receptor type 22
  • PTS: 6-pyruvoyltetrahydropterin synthase
  • PURA: purine rich element binding protein A
  • PYGL: glycogen phosphorylase L
  • PYGM: glycogen phosphorylase, muscle associated