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  2. ETHE1 - ETHE1 persulfide dioxygenase Gene

ETHE1 - ETHE1 persulfide dioxygenase Gene

中文名称:ETHE1 过硫化物双加氧酶

种属: Homo sapiens

同用名: HSCO; YF13H12

基因 ID: 23474 | 基因类型: protein coding

关于 ETHE1

Cytogenetic location: 19q13.31 Genomic coordinates (GRCh38): 19:43,506,719-43,527,201 (from NCBI)

This gene has 6 transcripts (splice variants), 199 orthologues, 4 paralogues and is associated with 3 phenotypes. Broad expression in colon (RPKM 85.9), duodenum (RPKM 30.9) and 20 other tissues.

功能概要

该基因编码参与线粒体硫化物氧化途径的含铁蛋白质金属β-内酰胺酶家族成员。编码的蛋白质催化过硫化物底物氧化成亚硫酸盐。该基因的某些突变导致乙基丙二酸脑病,这是一种影响大脑、胃肠道和外周血管的婴儿代谢紊乱。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2016 年 3 月]

This gene encodes a member of the metallo beta-lactamase family of iron-containing proteins involved in the mitochondrial sulfide oxidation pathway. The encoded protein catalyzes the oxidation of a persulfide substrate to sulfite. Certain mutations in this gene cause ethylmalonic encephalopathy, an infantile metabolic disorder affecting the brain, gastrointestinal tract and peripheral vessels. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]

ETHE1 基因产物(4)

mRNA Protein Name
NM_001320867.2 NP_001307796.1 persulfide dioxygenase ETHE1, mitochondrial isoform 2
NM_001320868.2 NP_001307797.1 persulfide dioxygenase ETHE1, mitochondrial isoform 3
NM_001320869.2 NP_001307798.1 persulfide dioxygenase ETHE1, mitochondrial isoform 4
NM_014297.5 NP_055112.2 persulfide dioxygenase ETHE1, mitochondrial isoform 1

ETHE1 蛋白结构

Lactamase_B

Lactamase_B: Metallo-beta-lactamase superfamily (36 - 195)

  • 0
  • 100
  • 200
  • 254 a.a.
蛋白主名 其他名称

persulfide dioxygenase ETHE1, mitochondrial

ethylmalonic encephalopathy 1

重组 ETHE1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76324 ETHE1 Protein, Human (His) O95571 (L13-A254) ≥95%

关联疾病

疾病名称 别名
Encephalopathy, Ethylmalonic

Ethylmalonic Encephalopathy

EE

Epema Syndrome

Encephalopathy, Petechiae, And Ethylmalonic Aciduria

Ethe1 Deficiency

Eme

Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria

Encephalopathy

Brain Diseases

Encephalopathies

Toxic Encephalopathy

Toxic Brain Fever

Toxic Brain Inflammation

Toxic Brain Stem Inflammation

Toxic Cerebral Fever

Toxic Cerebrospinal Fever

Toxic Cerebrospinal Inflammation

Encephalopathy Nec

Encephalopathy Nos

Encephalopathy Disease

Encephalopathy Syndrome

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Mitochondrial Dna Depletion Syndrome 5

Succinate-Coa Ligase Deficiency

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria

MTDPS5

Booth-Haworth-Dilling Syndrome

Mtdna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Or Without Methylmalonic Aciduria, Autosomal Recessive, Sucla2-Related

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic

Mitochondrial Dna Depletion Syndrome-5

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria, Autosomal Recessive

Mitochondrial Encephalomyopathy Aminoacidopathy

Sucla2-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Mild Methylmalonic Aciduria

Mitochondrial Dna Depletion, Encephalomyopathic Form, With Methylmalonic Aciduria

Succinate-Coenzyme A Ligase Deficiency

Mitochondrial Encephalomyopathy-Aminoacidopathy Syndrome

Encephalomyopathic Mitochondrial Dna Depletion Syndrome With Or Without Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome 5 Encephalomyopathic With Or Without Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome Encephalomyopathic Form With Or Without Methylmalonic Aciduria Autosomal Recessive Sucla2-Related

Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive

Mitochondrial Dna Depletion Syndrome, Type 5

Acute Ethmoiditis

Acute Ethmoidal Sinusitis

Acute Ethmoid Sinusitis

Ethmoidal Sinus - Acute

Sulfite Oxidase Deficiency, Isolated

Sulfite Oxidase Deficiency

Sulfocysteinuria

Isolated Sulfite Oxidase Deficiency

ISOD

Encephalopathy Due To Sulfite Oxidase Deficiency

Sulfhemoglobinemia
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of

Scad Deficiency

Acads Deficiency

Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency

Scadh Deficiency

Short-Chain Acyl-Coa Dehydrogenase Deficiency

Deficiency Of Butyryl-Coa Dehydrogenase

Short Chain Acyl-Coa Dehydrogenase Deficiency

ACADSD

Scadd

Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of

Acyl-Coa Dehydrogenase Short-Chain Deficiency

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Fumarase Deficiency

Fumaric Aciduria

FMRD

Fumarate Hydratase Deficiency

Deficiency, Fumarase

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

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
Felis catus ETHE1 VGNC VGNC:61977
Macaca mulatta ETHE1 VGNC VGNC:72320
Rattus norvegicus ETHE1 RGD RGD:1311034
Canis familiaris ETHE1 VGNC VGNC:40491
Mus musculus ETHE1 MGD MGI:1913321
Bos taurus ETHE1 VGNC VGNC:28623
Others ETHE1 NCBI