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Immunogen sequence: VLVESSERL GGWIRSVRGP NGAIFELGPR GIRPAGALGA RTLLLVSELG LDSEVLPVRG DHPAAQNRFL YVGGALHALP TGLRGLLRPS PPFSKPLFWA GLRELTKPRG KEPDETVHSF AQRRLGPEVA SLAMDSLCRG VFAGNSRELS IRSCFPSLFQ AEQTHRSILL GLLLGAGRTP QPDSALIRQA LAERWSQWSL RGGLEMLPQA LETHLTSRGV SVLRGQPVCG LSLQAEGRWK VSLRDSSLEA DHVISAIPAS VLSELLPAEA A (31-300 aa encoded by BC002357)
Protoporphyrinogen oxidase, the penultimate enzyme in the heme biosynthetic pathway, catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. The PPOX protein localizes to the inner membrane of mitochondria from various tissues, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. Genetic deficiency of PPOX results in variegate porphyria, a low penetrance, autosomal dominant disorder characterized by cutaneous photosensitivity and/or various neurological manifestations. The rare homozygous variant of VP is characterized by severe PPOX deficiency, and results in the onset of photosensitization by porphyrins in early childhood, skeletal abnormalities of the hand, and, less constantly, short stature, mental retardation and convulsions.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: PPO; protoporhyrinogen oxidase; Protoporphyrinogen oxidase
基因别名: PPO; PPOX; V290M; VP
UniProt ID: (Human) P50336, (Mouse) P51175
Entrez Gene ID: (Human) 5498, (Mouse) 19044, (Rat) 289219
分子生物学功能:
oxidase