PPOX - protoporphyrinogen oxidase Gene

Homo sapiens

Also known as VP; PPO; V290M

Gene ID: 5498 | Gene type: protein coding

About PPOX

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:161,165,728-161,178,013 (from NCBI)

This gene has 27 transcripts (splice variants), 202 orthologues, 7 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 6.3), skin (RPKM 3.4) and 25 other tissues.

Summary

This gene encodes the penultimate Enzyme of heme biosynthesis, which catalyzes the 6-electron oxidation of protoporphyrinogen IX to form protoporphyrin IX. Mutations in this gene cause variegate porphyria, an autosomal dominant disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an Enzyme located on the inner mitochondrial membrane. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

PPOX Products(10)

mRNA	Protein	Name
NM_000309.5	NP_000300.1	protoporphyrinogen oxidase isoform 1
NM_001122764.3	NP_001116236.1	protoporphyrinogen oxidase isoform 1
NM_001350128.2	NP_001337057.1	protoporphyrinogen oxidase isoform 2
NM_001350129.2	NP_001337058.1	protoporphyrinogen oxidase isoform 3
NM_001350130.2	NP_001337059.1	protoporphyrinogen oxidase isoform 4
NM_001350131.2	NP_001337060.1	protoporphyrinogen oxidase isoform 4
NM_001365398.1	NP_001352327.1	protoporphyrinogen oxidase isoform 1
NM_001365399.1	NP_001352328.1	protoporphyrinogen oxidase isoform 5
NM_001365400.1	NP_001352329.1	protoporphyrinogen oxidase isoform 3
NM_001365401.1	NP_001352330.1	protoporphyrinogen oxidase isoform 4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables oxygen-dependent protoporphyrinogen oxidase activity	IDA IDA: Inferred from direct assay	7713909	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in heme biosynthetic process	IDA IDA: Inferred from direct assay	7713909	GOA
involved in porphyrin-containing compound biosynthetic process	IDA IDA: Inferred from direct assay	7713909	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrial membrane	IMP IMP: Inferred from mutant phenotype	7713909	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PPOX Protein Structure

Amino_oxidase

0
100
200
300
400
477 a.a.

Protein Preferred Names

Protein Names

protoporphyrinogen oxidase

Related Diseases

Diseases

Alias

Variegate Porphyria

Porphyria Variegata	Protoporphyrinogen Oxidase Deficiency
VP	Ppox Deficiency
Porphyria, South African Type	Porphyria Variegata, Susceptibility To
Protocoproporphyria	Porphyria Variegate
Porphyria South African Type	Pv
Porphyria, Variegate	Vp - [Variegate Porphyria]

Constipation

Migraine With Or Without Aura 1

Migraine	Migraine With Or Without Aura, Susceptibility To, 1
Migraine Disorder	Migraine Variant
Migraines	Migraine Disorders
Mgr1	Mgau
Ma	Migraine With Or Without Aura
Classic Migraine	Common Migraine
Disorder, Migraine	Headache Migraine
Headache Migrainous	Migraine Headache
Migraine Syndrome	Headache Including Migraine
Migraine, Susceptibility To

Porphyria

Hematoporphyria	Porphyrias
Disorder Of Porphyrin And Hem Metabolism	Disorder Of Porphyrin Metabolism
Porphyrinopathy	Porphyrin Disorder
Disorder Of Porphyrin And Heme Metabolism	Disorders Of Porphyrin Metabolism

Porphyria, Acute Intermittent

Acute Intermittent Porphyria	Porphobilinogen Deaminase Deficiency
Pbgd Deficiency	AIP
Porphyria, Swedish Type	Uroporphyrinogen Synthase Deficiency
Ups Deficiency	Porphyria, Acute Intermittent, Nonerythroid Variant
Hydroxymethylbilane Synthase Deficiency	Aip - Acute Intermittent Porphyria
Porphyria Intermittent Acute	Pyrroloporphyria
Hmbs Deficiency	Porphyria Acute Intermittent

Coproporphyria, Hereditary

Hereditary Coproporphyria	Coproporphyria
Coproporphyrinogen Oxidase Deficiency	HCP
Cpo Deficiency	Cpox Deficiency
Cpx Deficiency	Hereditary Coproporphyria Porphyria
Cpro Deficiency	Coproporphyria Hereditary
Porphyria Hepatica Ii	Porphyria Hepatica Coproporphyria
Porphyria, Hereditary Coproporphyria	Harderoporphyria

Acute Porphyria

Porphyrias, Hepatic	Hepatic Porphyria
Porphyria Hepatic	Acute Intermittent Porphyria

Protoporphyria, Erythropoietic, 1

Erythropoietic Protoporphyria	Epp
Ferrochelatase Deficiency	Protoporphyria, Erythropoietic
Erythrohepatic Protoporphyria	Heme Synthetase Deficiency
Autosomal Erythropoietic Protoporphyria	EPP1
Protoporphyria	Protoporphyria Erythropoietic

Porphyria Cutanea Tarda

Hepatoerythropoietic Porphyria	HEP
Uroporphyrinogen Decarboxylase Deficiency	Pct
Pct, Type Ii	Porphyria, Hepatocutaneous Type
Urod Deficiency	Porphyria, Hepatoerythropoietic
Porphyria Cutanea Tarda, Susceptibility To	Familial Porphyria Cutanea Tarda
Porphyria Cutanea Tarda, Type Ii	Pct, 'Familial' Type
Porphyria, Hepatic	FPCT
Pct Type Ii	Porphyria Cutanea Tarda Type Ii
Porphyria Hepatocutaneous Type	Heterozygous Uroporphyrinogen Decarboxylase Deficiency
Urod - [Uroporphyrinogen Decarboxylase] Deficiency	Pct - [Porphyria Cutanea Tarda]

Hypertrichosis

Cutaneous Porphyria

Porphyria, Erythropoietic

Erythropoietic Porphyria

Photoparoxysmal Response 1

Photosensitivity Disease	Photodermatitis
Photosensitivity Disorders	PPR1
Ppr	Photosensitivity
Photoconvulsive Reaction	Epilepsy, Photogenic
Photosensitivity Of Skin	Dermatitis, Phototoxic

Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome

Fowler Syndrome	Encephaloclastic Proliferative Vasculopathy
Hydrocephaly/Hydranencephaly Due To Cerebral Vasculopathy	PVHH
Epv	Cerebral Proliferative Glomeruloid Vasculopathy
Hydranencephaly, Fowler Type	Proliferative Vasculopathy And Hydranencephaly/Hydrocephaly
Fowler'S Syndrome	Fowler Christmas Chapple Syndrome
Fowler Vasculopathy	Polycystic Ovaries Urethral Sphincter Dysfunction
Voiding Dysfunction And Polycystic Ovaries	Fowler Vasculopaty
Hydranencephaly Fowler Type	Pgv
Polycystic Ovaries-Urethral Sphincter Dysfunction Syndrome

Erythrasma

Infection Due To Corynebacterium Minutissimum

Dry Beriberi

Fazio-Londe Disease

Fazio-Londe Syndrome	Riboflavin Transporter Deficiency Neuronopathy
Brown-Vialetto-Van Laere Syndrome	Progressive Bulbar Palsy Of Childhood
Bulbar Palsy, Progressive, Of Childhood	Bvvls
Pontobulbar Palsy With Deafness	Progressive Bulbar Palsy With Sensorineural Deafness
Riboflavin Transporter Deficiency	FALOND
Bulbar Palsy Progressive Of Childhood	Bulbar Palsy Of Childhood, Progressive

Phototoxic Dermatitis

Dermatitis, Phototoxic	Photosensitisation Reaction
Photosensitive Dermatitis	Photosensitiveness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-12464	Butafenacil		/	Unkown
HY-RS10972	PPOX Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	PPOX	RGD	RGD:1310543
Felis catus	PPOX	VGNC	VGNC:68997
Bos taurus	PPOX	VGNC	VGNC:33219
Mus musculus	PPOX	MGD	MGI:104968
Canis familiaris	PPOX	VGNC	VGNC:44874
Macaca mulatta	PPOX	VGNC	VGNC:76365

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