1. Gene
  2. CPOX - coproporphyrinogen oxidase Gene

CPOX - coproporphyrinogen oxidase Gene

中文名称:粪卟啉原氧化酶

种属: Homo sapiens

同用名: COX; CPO; CPX; HCP; HARPO

基因 ID: 1371 | 基因类型: protein coding

关于 CPOX

Cytogenetic location: 3q11.2 Genomic coordinates (GRCh38): 3:98,570,488-98,593,611 (from NCBI)

This gene has 4 transcripts (splice variants), 204 orthologues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 5.0), liver (RPKM 3.1) and 24 other tissues.

功能概要

该基因编码的蛋白质是血红素生物合成途径中的第六种酶。编码的酶是可溶的,存在于线粒体的膜间隙中。该酶催化粪卟啉原 III 逐步氧化脱羧为血红素前体原卟啉原 IX。该基因的缺陷是遗传性粪卟啉症 (HCP) 的一个原因。[RefSeq 提供,2009 年 10 月]

The protein encoded by this gene is the sixth enzyme of the heme biosynthetic pathway. The encoded enzyme is soluble and found in the intermembrane space of mitochondria. This enzyme catalyzes the stepwise oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a precursor of heme. Defects in this gene are a cause of hereditary coproporphyria (HCP).[provided by RefSeq, Oct 2009]

CPOX 基因产物(1)

mRNA Protein Name
NM_000097.7 NP_000088.3 oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial precursor
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables coproporphyrinogen oxidase activity IDA
IDA: 通过直接分析推断
7987309 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
16176984 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

CPOX 蛋白结构

Coprogen_oxidas

Coprogen_oxidas: Coproporphyrinogen III oxidase (151 - 453)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 454 a.a.
蛋白主名 其他名称

oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial

coprogen oxidase

关联疾病

疾病名称 别名
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

Harderoporphyria

HARPO

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 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]

Protoporphyria, Erythropoietic, 1

Erythropoietic Protoporphyria

Epp

Ferrochelatase Deficiency

Protoporphyria, Erythropoietic

Erythrohepatic Protoporphyria

Heme Synthetase Deficiency

Autosomal Erythropoietic Protoporphyria

EPP1

Protoporphyria

Protoporphyria Erythropoietic

Acute Porphyria

Porphyrias, Hepatic

Hepatic Porphyria

Porphyria Hepatic

Acute Intermittent Porphyria

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]

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

Scleromalacia Perforans
Hemolytic Anemia

Anemia, Hemolytic

Anemia Hemolytic

Anaemia Due To Other Disorders Of Glutathione Metabolism

Chronic Non Spherocytic Anaemia

G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia

Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia

Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia

Favism Anaemia

Haemolytic Anaemia Due Tog6pd Deficiency

Favism

Pentose Phosphate Pathway Disorder Anaemia

Anaemia Due To Pentose Phosphate Pathway Defect

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Erythroleukemia
Cutaneous Porphyria

Porphyria, Erythropoietic

Erythropoietic Porphyria

Porphyria, Congenital Erythropoietic

Congenital Erythropoietic Porphyria

Gunther Disease

CEP

Uros Deficiency

Günther Disease

Uroporphyrinogen Iii Synthase Deficiency

Congenital Porphyria

Uroporphyrinogen Iii Synthase, Deficiency Of

Porphyria, Erythropoietic, Congenital

Porphyria, Erythropoietic

Deficiency Of Uroporphyrinogen Iii Synthase

Portal Hypertension

Hypertension, Portal

Hypertension Portal

Pht - [Portal Hypertension]

Portal Htn

Marburg Hemorrhagic Fever

Marburg Virus Disease

Marburg Disease

Green Monkey Disease

Mhf

Vervet Monkey Disease

Mard - [Marburg Disease]

Mvd - [Marburg Virus Disease]

Marburg Haemorrhagic Fever

Mhf - [Marburg Haemorrhagic Fever]

Chronic Progressive External Ophthalmoplegia

Progressive External Ophthalmoplegia

Cpeo

Peo

Ophthalmoplegia, Chronic Progressive External

Ophthalmoplegia, External, Progressive, Chronic

Graefe Disease

Peo - [Progressive External Ophthalmoplegia]

Ophthalmoplegia Plus Syndrome

Anemia, Sideroblastic, 1

Xlsa

X-Linked Sideroblastic Anemia

Hypochromic Anemia

Anh1

Hereditary Iron-Loading Anemia

Anemia, Sideroblastic, X-Linked

Anemia, Hereditary Sideroblastic

Erythroid 5-Aminolevulinate Synthase Deficiency

Hereditary Sideroblastic Anemia

SIDBA1

Anemia, Hypochromic

Sideroblastic Anemia 1

Anemia Hypochromic

X Chromosome-Linked Sideroblastic Anemia

Sideroblastic Anaemia 1

X-Linked Sideroblastic Anaemia

Anemia Hereditary Sideroblastic

Anemia Sex-Linked Hypochromic Sideroblastic

Congenital Sideroblastic Anemia

Sideroblastic Anemia X-Linked

Anemia, Sex-Linked Hypochromic Sideroblastic

Congenital Sideroblastic Anaemia

X-Linked Pyridoxine-Responsive Sideroblastic Anemia

Anemia Congenital Sideroblastic

Anemia, Sideroblastic, Type 1

Sex-Linked Hypochromic Sideroblastic Anaemia

Autosomal Recessive Sideroblastic Anaemia

Familial Sex Linked Hypochromic Anaemia

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

Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers

Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

Myopathy

Muscular Diseases

Myopathies

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Aceruloplasminemia

Cerebellar Ataxia

Hypoceruloplasminemia

Hemosiderosis, Systemic, Due To Aceruloplasminemia

Familial Apoceruloplasmin Deficiency

Hereditary Ceruloplasmin Deficiency

Deficiency Of Ferroxidase

Hypoceruloplasminemia, Hereditary

Ceruloplasmin Deficiency

Systemic Hemosiderosis Due To Aceruloplasminemia

ACERULOP

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus CPOX RGD RGD:1311817
Macaca mulatta CPOX VGNC VGNC:110371
Bos taurus CPOX VGNC VGNC:27667
Canis familiaris CPOX VGNC VGNC:53070
Mus musculus CPOX MGD MGI:104841