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Details of CPOX gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| CPOX | CPO,CPX | P36551 | HEM6_HUMAN | 1371 | ENSG00000080819 | Coproporphyrinogen-III oxidase, mitochondrial | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Hereditary coproporphyria (HCP) [MIM:121300]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 121300 | ||||||||
Phenotypes
Abdominal pain, Abdominal symptom, Abnormal emotion/affect behavior, Abnormal fear/anxiety-related behavior, Abnormality of blood and blood-forming tissues, Abnormality of cardiovascular system physiology, Abnormality of erythrocytes, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of muscle physiology, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the biliary system, Abnormality of the cardiovascular system, Abnormality of the central nervous system, Abnormality of the immune system, Abnormality of the integument, Abnormality of the liver, Abnormality of the lymphatic system, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the respiratory system, Abnormality of the skin, Abnormality of the spleen, Acute episodes of neuropathic symptoms, All, Anemia, Anemia due to reduced life span of red cells, Anxiety, Arrhythmia, Autosomal dominant inheritance, Behavioural/Psychiatric Abnormality, Cholestasis, Confusion, Congenital hemolytic anemia, Constipation, Cutaneous photosensitivity, Depression, Dermatological manifestations of systemic disorders, Diarrhea, Functional respiratory abnormality, Generalized abnormality of skin, Hallucinations, Hemolytic anemia, Hepatomegaly, Hypertension, Jaundice, Mode of inheritance, Muscle weakness, Nausea and vomiting, Peripheral neuropathy, Phenotypic abnormality, Reduced consciousness/confusion, Respiratory paralysis, Splenomegaly, Tachycardia, Visceromegaly, Vomiting, Weakness of muscles of respiration.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Cpox | Coprox | --- | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| CPOX | PEO1 | 0.374661707 | CPOX | PEO1 | cpx474 | no | yes | no | Known |