InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: PPOX

Summary

InnateDB Protein

IDBP-104207.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

PPOX

Protein Name

protoporphyrinogen oxidase

Synonyms

PPO; V290M; VP;

Species

Homo sapiens

Ensembl Protein

ENSP00000343943

InnateDB Gene

IDBG-104205 (PPOX)

Protein Structure

UniProt Annotation

Function

Catalyzes the 6-electron oxidation of protoporphyrinogen-IX to form protoporphyrin-IX. {ECO:0000269PubMed:21048046, ECO:0000269PubMed:23467411, ECO:0000269PubMed:7713909}.

Subcellular Localization

Mitochondrion inner membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}; Intermembrane side {ECO:0000250}.

Disease Associations

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 the most common form of porphyria in South Africa. It is characterized by skin hyperpigmentation and hypertrichosis, abdominal pain, tachycardia, hypertension and neuromuscular disturbances. High fecal levels of protoporphyrin and coproporphyrin, increased urine uroporphyrins and iron overload are typical markers of the disease. {ECO:0000269PubMed:10486317, ECO:0000269PubMed:10870850, ECO:0000269PubMed:11074242, ECO:0000269PubMed:11102990, ECO:0000269PubMed:11286631, ECO:0000269PubMed:11348478, ECO:0000269PubMed:11350188, ECO:0000269PubMed:11474578, ECO:0000269PubMed:12380696, ECO:0000269PubMed:12655566, ECO:0000269PubMed:12859407, ECO:0000269PubMed:14669009, ECO:0000269PubMed:16433813, ECO:0000269PubMed:16922948, ECO:0000269PubMed:16947091, ECO:0000269PubMed:18350656, ECO:0000269PubMed:18570668, ECO:0000269PubMed:19320019, ECO:0000269PubMed:23430901, ECO:0000269PubMed:24073655, ECO:0000269PubMed:8673113, ECO:0000269PubMed:8817334, ECO:0000269PubMed:8852667, ECO:0000269PubMed:9541112, ECO:0000269PubMed:9763307, ECO:0000269PubMed:9811936}. Note=The disease is caused by mutations 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:0000269PubMed:10486317, ECO:0000269PubMed:9811936}.

Tissue Specificity

Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 5 experimentally validated interaction(s) in this database.

Experimentally validated
Total	5 [view]
Protein-Protein	5 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004729	oxygen-dependent protoporphyrinogen oxidase activity
GO:0016491	oxidoreductase activity
GO:0050660	flavin adenine dinucleotide binding

Biological Process

GO:0006778	porphyrin-containing compound metabolic process
GO:0006779	porphyrin-containing compound biosynthetic process
GO:0006782	protoporphyrinogen IX biosynthetic process
GO:0006783	heme biosynthetic process
GO:0044281	small molecule metabolic process
GO:0055114	oxidation-reduction process