PPOX
entrez
5498
canonical
uniprot
P50336
canonical
ensembl
ENSG00000143224
resolver
ensp
ENSP00000343943
resolver
ensp
ENSP00000356978
resolver
ensp
ENSP00000498501
resolver
ensp
ENSP00000498884
resolver
ensp
ENSP00000551095
resolver
ensp
ENSP00000551104
resolver
ensp
ENSP00000551105
resolver
ensp
ENSP00000641300
resolver
ensp
ENSP00000720521
resolver
enst
ENST00000352210
resolver
enst
ENST00000367999
resolver
enst
ENST00000881045
resolver
enst
ENST00000881046
resolver
enst
ENST00000971241
resolver
genesymbol
PPOX
resolver
hgnc
HGNC:9280
resolver
uniprot
B4DY76
resolver
uniprot
D3DVG0
resolver
uniprot
Q5VTW8
resolver
uniprot_entry
B4DY76_HUMAN
resolver
uniprot_entry
PPOX_HUMAN
resolver
uniprot_sec
D3DVG0
resolver
uniprot_sec
Q5VTW8
resolver
amino_acid_sequence
MGRTVVVLGGGISGLAASYHLSRAPCPPKVVLVESSERLGGWIRSVRGPNGAIFELGPRGIRPAGALGARTLLLVSELGLDSEVLPVRGDHPAAQNRFLYVGGALHALPTGLRGLLRPSPPFSKPLFWAGLRELTKPRGKEPDETVHSFAQRRLGPEVASLAMDSLCRGVFAGNSRELSIRSCFPSLFQAEQTHRSILLGLLLGAGRTPQPDSALIRQALAERWSQWSLRGGLEMLPQALETHLTSRGVSVLRGQPVCGLSLQAEGRWKVSLRDSSLEADHVISAIPASVLSELLPAEAAPLARALSAITAVSVAVVNLQYQGAHLPVQGFGHLVPSSEDPGVLGIVYDSVAFPEQDGSPPGLRVTVMLGGSWLQTLEASGCVLSQELFQQRAQEAAATQLGLKEMPSHCLVHLHKNCIPQYTLGHWQKLESARQFLTAHRLPLTLAGASYEGVAVNDCIESGRQAAVSVLGTEPNS
uniprot
proteins
disease_involvement
DISEASE: Variegate porphyria (VP) [MIM:176200]: A form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. They are classified as erythropoietic or hepatic, depending on whether the enzyme deficiency occurs in red blood cells or in the liver. Variegate porphyria is an acute hepatic form characterized by partial reduction of protoporphyrinogen oxidase activity, increased photosensitivity, skin blistering and scarring of sun-exposed areas, skin hyperpigmentation, abdominal pain, and neuropsychiatric symptoms. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. Inheritance is autosomal dominant with incomplete penetrance. {ECO:0000269|PubMed:10486317, ECO:0000269|PubMed:11074242, ECO:0000269|PubMed:11102990, ECO:0000269|PubMed:11348478, ECO:0000269|PubMed:11350188, ECO:0000269|PubMed:11474578, ECO:0000269|PubMed:12380696, ECO:0000269|PubMed:12655566, ECO:0000269|PubMed:12859407, ECO:0000269|PubMed:12922165, ECO:0000269|PubMed:14669009, ECO:0000269|PubMed:16433813, ECO:0000269|PubMed:16621625, ECO:0000269|PubMed:16922948, ECO:0000269|PubMed:16947091, ECO:0000269|PubMed:18350656, ECO:0000269|PubMed:18570668, ECO:0000269|PubMed:19320019, ECO:0000269|PubMed:21048046, ECO:0000269|PubMed:23430901, ECO:0000269|PubMed:23467411, ECO:0000269|PubMed:24073655, ECO:0000269|PubMed:8817334, ECO:0000269|PubMed:8852667, ECO:0000269|PubMed:9763307}. Note=The disease is caused by variants affecting the gene represented in this entry. Mutations leading to severe PPOX deficiency cause the rare homozygous variant form of VP. Missense mutations that preserve 10%-25% of wild-type activity may not cause clinically overt VP in heterozygotes (PubMed:9811936). Mutations with intermediate effect on catalytic activity may cause VP, but with a low clinical penetrance (PubMed:10486317). {ECO:0000269|PubMed:10486317, ECO:0000269|PubMed:9811936}.; DISEASE: Variegate porphyria, childhood-onset (VPCO) [MIM:620483]: An autosomal recessive form of variegate porphyria, a disorder of heme biosynthesis that results from diminished activity of protoporphyrinogen oxidase. VPCO is characterized by severe protoporphyrinogen oxidase deficiency, onset of photosensitization by porphyrins in early childhood, skin scarring and hyperpigmentation, and skeletal abnormalities of the hand. Additional variable features are short stature, impaired intellectual development, and seizures. VPCO patients rarely experience acute neuropsychiatric or abdominal attacks. {ECO:0000269|PubMed:10870850, ECO:0000269|PubMed:11286631, ECO:0000269|PubMed:33159949, ECO:0000269|PubMed:8673113, ECO:0000269|PubMed:9541112, ECO:0000269|PubMed:9811936}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.3.3.4
uniprot
proteins
function
FUNCTION: Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX. {ECO:0000269|PubMed:21048046, ECO:0000269|PubMed:23467411, ECO:0000269|PubMed:7713909}.
uniprot
proteins
mass_dalton
50765
uniprot
proteins
mutagenesis
MUTAGEN 59; /note="R->G: Decreases enzyme activity by 75%."; /evidence="ECO:0000269|PubMed:23467411"; MUTAGEN 59; /note="R->Q: Decreases enzyme activity by 90%. Strongly decreases affinity for protoporphyrinogen-IX."; /evidence="ECO:0000269|PubMed:23467411"; MUTAGEN 74; /note="L->P: Abolishes enzyme activity. Impairs protein folding and/or stability."; /evidence="ECO:0000269|PubMed:21048046"; MUTAGEN 97; /note="R->D: Decreases enzyme activity by 89%. Impairs protein folding and/or stability."; /evidence="ECO:0000269|PubMed:21048046, ECO:0000269|PubMed:23467411"; MUTAGEN 166; /note="L->N: Decreases enzyme activity by 95%."; /evidence="ECO:0000269|PubMed:21048046, ECO:0000269|PubMed:23467411"; MUTAGEN 169; /note="G->A: Decreases enzyme activity by 64%."; /evidence="ECO:0000269|PubMed:21048046, ECO:0000269|PubMed:23467411"; MUTAGEN 284; /note="S->I: Decreases enzyme activity by 87%. Impairs protein folding and/or stability."; /evidence="ECO:0000269|PubMed:21048046"; MUTAGEN 290; /note="V->L: No effect on enzyme activity."; /evidence="ECO:0000269|PubMed:21048046"; MUTAGEN 331; /note="F->A: Decreases enzyme activity by 50%."; /evidence="ECO:0000269|PubMed:21048046, ECO:0000269|PubMed:23467411"; MUTAGEN 334; /note="L->A: Decreases enzyme activity by 86%."; /evidence="ECO:0000269|PubMed:21048046, ECO:0000269|PubMed:23467411"; MUTAGEN 347; /note="V->A: Decreases enzyme activity by 45%."; /evidence="ECO:0000269|PubMed:21048046, ECO:0000269|PubMed:23467411"; MUTAGEN 368; /note="M->A: Decreases enzyme activity by 52%."; /evidence="ECO:0000269|PubMed:21048046, ECO:0000269|PubMed:23467411
uniprot
proteins
pathway_participation
PATHWAY: Porphyrin-containing compound metabolism; protoporphyrin-IX biosynthesis; protoporphyrin-IX from protoporphyrinogen-IX: step 1/1. {ECO:0000269|PubMed:21048046, ECO:0000269|PubMed:23467411}.
uniprot
proteins
protein_family
Protoporphyrinogen oxidase subfamily
uniprot
proteins
protein_family
Protoporphyrinogen/coproporphyrinogen oxidase family
uniprot
proteins
pubmed
10486317
uniprot
proteins
pubmed
10870850
uniprot
proteins
pubmed
11074242
uniprot
proteins
pubmed
11102990
uniprot
proteins
pubmed
11286631
uniprot
proteins
pubmed
11348478
uniprot
proteins
pubmed
11350188
uniprot
proteins
pubmed
11474578
uniprot
proteins
pubmed
12380696
uniprot
proteins
pubmed
12655566
uniprot
proteins
pubmed
12859407
uniprot
proteins
pubmed
12922165
uniprot
proteins
pubmed
14669009
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16433813
uniprot
proteins
pubmed
16621625
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16922948
uniprot
proteins
pubmed
16947091
uniprot
proteins
pubmed
18350656
uniprot
proteins
pubmed
18570668
uniprot
proteins
pubmed
19320019
uniprot
proteins
pubmed
21048046
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23430901
uniprot
proteins
pubmed
23467411
uniprot
proteins
pubmed
24073655
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
33159949
uniprot
proteins
pubmed
7713909
uniprot
proteins
pubmed
8673113
uniprot
proteins
pubmed
8771201
uniprot
proteins
pubmed
8806618
uniprot
proteins
pubmed
8817334
uniprot
proteins
pubmed
8852667
uniprot
proteins
pubmed
9541112
uniprot
proteins
pubmed
9763307
uniprot
proteins
pubmed
9811936
uniprot
proteins
sequence_length
477
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P51175}; Peripheral membrane protein {ECO:0000250|UniProtKB:P51175}; Intermembrane side {ECO:0000250|UniProtKB:P51175}.
uniprot
proteins