PPOX - protoporphyrinogen oxidase Gene

Also Known as VP; PPO; V290M

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5498

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	References	Source
enables oxygen-dependent protoporphyrinogen oxidase activity	IDA IDA: Inferred from direct assay	7713909	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10972	PPOX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-12464	Butafenacil		98.99%	Unkown
HY-RS06050	HCRT Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18943	Hcrt Mouse Pre-designed siRNA Set A	Pre-designed Set	/	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