Entity Details

Primary name HEM6_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP36551
EntryNameHEM6_HUMAN
FullNameOxygen-dependent coproporphyrinogen-III oxidase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length454
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesCPOX

GO terms

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GOName
GO:0004109 coproporphyrinogen oxidase activity
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005758 mitochondrial intermembrane space
GO:0005829 cytosol
GO:0006782 protoporphyrinogen IX biosynthetic process
GO:0006783 heme biosynthetic process
GO:0042803 protein homodimerization activity

Subcellular Location

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Subcellular Location
Mitochondrion intermembrane space

Domains

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DomainNameCategoryType
IPR001260 Coproporphyrinogen III oxidase, aerobicFamilyFamily
IPR018375 Coproporphyrinogen III oxidase, conserved siteSiteConserved site
IPR036406 Oxygen-dependent coproporphyrinogen III oxidase superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618892 OMIMHarderoporphyria (HARPO)An autosomal recessive form of porphyria. Porphyrias are inherited defects in the biosynthesis of heme, resulting in the accumulation and increased excretion of porphyrins or porphyrin precursors. HARPO is a rare erythropoietic variant form characterized by neonatal hemolytic anemia, sometimes accompanied by skin lesions, and massive excretion of harderoporphyrin in feces. The disease is caused by variants affecting the gene represented in this entry.
121300 OMIMHereditary coproporphyria (HCP)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. Hereditary coproporphyria is an acute hepatic porphyria characterized by skin photosensitivity, attacks of abdominal pain, neurological disturbances, and psychiatric symptoms. Most attacks are precipitated by drugs, alcohol, caloric deprivation, infections, or endocrine factors. Hereditary coproporphyria is biochemically characterized by overexcretion of coproporphyrin III in the urine and in the feces. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
HEM6_HUMANUB2G2_HUMANBioGRID, IntAct21988832 details
HEM6_HUMANATOH1_HUMANBioGRID27542412 details