PPOX

GENE INFORMATION

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Gene name

PPOX (HGNC Symbol)

Synonyms

PPO, VP

Description

Protoporphyrinogen oxidase (HGNC Symbol)

Entrez gene 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]

Chromosome

1

Cytoband

q23.3

Chromosome location (bp)

161166410 - 161178013

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000143224 (version 78.38)

Entrez gene

5498

UniProt

P50336 (UniProt - Evidence at protein level)

neXtProt

NX_P50336

Antibodypedia

PPOX antibodies
 

PROTEIN VIEW

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PPOX-001
 
PPOX-002
 
PPOX-011
 
PPOX-012
 
PPOX-018
 
PPOX-020
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PPOX-001 ENSP00000343943
ENST00000352210
P50336
Show all »
Show » Show » 477 50.8 No 0
PPOX-002 ENSP00000356978
ENST00000367999
P50336
Show all »
Show » Show » 477 50.8 No 0
PPOX-011 ENSP00000444216
ENST00000544598
F5GZT7
Show all »
Show » Show » 185 19.6 No 0
PPOX-012 ENSP00000443769
ENST00000535223
F5H825
Show all »
Show » 156 17.1 Yes 0
PPOX-018 ENSP00000439544
ENST00000537523
Q96SE3
Show all »
Show » Show » 230 24.7 No 0
PPOX-020 ENSP00000438136
ENST00000537829
Show » Show » 161 16.8 No 0