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Ppox Gene Detail
Summary
  • Symbol
    Ppox
  • Name
    protoporphyrinogen oxidase
  • Feature Type
    protein coding gene
  • IDs
    MGI:104968
    NCBI Gene: 19044
  • Alliance
    genome feature page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:171104564-171108955 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 79.30 cM, cytoband H2
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    168 from dbSNP Build 142
  • Strain Annotations
    19
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_104968
 protein coding gene Chr1:171103563-171108955 (-)
129S1/SvImJ ENSMUSG00200046352
 protein coding gene Chr1:168589379-168594915 (-)
A/J ENSMUSG00195048131
 protein coding gene Chr1:167942375-167948065 (-)
AKR/J ENSMUSG00220026422
 protein coding gene Chr1:167687494-167693043 (-)
BALB/cJ ENSMUSG00180044131
 protein coding gene Chr1:168228283-168234951 (-)
C3H/HeJ ENSMUSG00175041071
 protein coding gene Chr1:168240385-168246086 (-)
C57BL/6NJ ENSMUSG00215044119
 protein coding gene Chr1:168060361-168065910 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014862
 protein coding gene Chr1:161538016-161543188 (-)
CAST/EiJ ENSTCUG00005043241
 protein coding gene Chr1:166574546-166580094 (-)
CBA/J ENSMUSG00210034162
 protein coding gene Chr1:168117314-168123015 (-)
DBA/2J ENSMUSG00185027412
 protein coding gene Chr1:172430255-172436923 (-)
FVB/NJ ENSMUSG00205033844
 protein coding gene Chr1:167126407-167132098 (-)
JF1/MsJ ENSUMUG00000006344
 protein coding gene Chr1:171557177-171562726 (-)
LP/J ENSMUSG00230025038
 protein coding gene Chr1:172005147-172011815 (-)
NOD/ShiLtJ ENSMUSG00190031686
 protein coding gene Chr1:167910054-167917465 (-)
NZO/HlLtJ ENSMUSG00225003862
 protein coding gene Chr1:175625929-175631619 (-)
PWK/PhJ ENSLUMG00010029419
 protein coding gene Chr1:166909152-166914842 (-)
SPRET/EiJ ENSMSPG00010045163
 protein coding gene Chr1:170440243-170445798 (-)
WSB/EiJ ENSIUOG00005037246
 protein coding gene Chr1:167325446-167332101 (-)



Homology
more
  • Human Ortholog
    PPOX, protoporphyrinogen oxidase
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PPOX, protoporphyrinogen oxidase
  • Synonyms
    PPO, V290M, VP, VPCO
  • Links
    NCBI Gene ID: 5498
    UniProt: P50336

  • Chr Location
    1q23.3; chr1:161165728-161178013 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ppox mouse models; 1 with human PPOX associations

Human Disease Mouse Models
      
IDs
 View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    25 phenotypes from 3 alleles in 2 genetic backgrounds
    3 images
    13 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a knock-out allele exhibit decreased embryo size, abnormal head shape and allantois morphology, failure of embryo turning, impaired heart development, incomplete rostral neuropore closure, caudal neural tube kinks, placentation defects, and complete lethality during organogenesis. Mice heterozygous for the R59W knock-in mutation exhibit elevated stool porphyrin levels and reduced hepatic protoporphyrinogen oxidase activity.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    42
  • GO References
    19
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    762
  • Tissues
    152
  • cDNA Data
    11
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19044 NCBI Gene Model | MGI Sequence Detail 4392 C57BL/6J ±  kb
    transcript NM_008911 RefSeq | MGI Sequence Detail 1821 C57BL/6  
    polypeptide P51175 UniProt | EBI | MGI Sequence Detail 477 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 11
      Primer pair 4

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-31041
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 19
      Phenotypes 13
    • Earliest
      J:341419 Deybach JC, et al., The mitochondrial location of protoporphyrinogen oxidase. Eur J Biochem. 1985 Jun 3;149(2):431-5
    • Latest
      J:386951 Guertin TM, et al., Onset of embryonic and placental defects coincide in 19 of 22 novel mid-gestation lethal murine knockout lines. Development. 2026 May 15;153(10):dev205276
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Send questions and comments to User Support.     		last database update
    09/08/2026
    MGI 6.24     		The Jackson Laboratory