2. Gene
  3. COX20 - cytochrome c oxidase assembly factor COX20 Gene

COX20 - cytochrome c oxidase assembly factor COX20 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：细胞色素 c 氧化酶组装因子 COX20

种属: Homo sapiens

同用名: FAM36A; MC4DN11

基因 ID: 116228 | 基因类型: protein coding

关于 COX20

Cytogenetic location: 1q44 Genomic coordinates (GRCh38): 1:244,835,306-244,845,063 (from NCBI)

This gene has 5 transcripts (splice variants), 181 orthologues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 25.6), kidney (RPKM 25.6) and 25 other tissues.

功能概要

该基因编码的蛋白质在细胞色素 C 氧化酶的组装中发挥作用，细胞色素 C 氧化酶是呼吸通路的重要组成部分。它包含两个跨膜螺旋并定位于线粒体膜。该基因的突变可导致线粒体复合物 IV 缺陷，从而导致共济失调和肌肉肌张力减退。该基因有多个假基因。可变剪接导致多个转录本变体。[RefSeq 提供，2015 年 8 月]

This gene encodes a protein that plays a role in the assembly of cytochrome C oxidase, an important component of the respiratory pathway. It contains two transmembrane helices and localizes to the mitochondrial membrane. Mutations in this gene can cause mitochondrial complex IV deficiency, which results in ataxia and muscle hypotonia. There are multiple pseudogenes for this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

COX20 基因产物(5)

mRNA Protein Name
NM_001312871.1 NP_001299800.1 cytochrome c oxidase assembly protein COX20, mitochondrial isoform 1
NM_001312872.1 NP_001299801.1 cytochrome c oxidase assembly protein COX20, mitochondrial isoform 2
NM_001312873.1 NP_001299802.1 cytochrome c oxidase assembly protein COX20, mitochondrial isoform 3
NM_001312874.1 NP_001299803.1 cytochrome c oxidase assembly protein COX20, mitochondrial isoform 4
NM_198076.6 NP_932342.1 cytochrome c oxidase assembly protein COX20, mitochondrial isoform 1

COX20 蛋白结构

DUF3767

DUF3767: Protein of unknown function (DUF3767) (13 - 98)

  • 0
  • 100
  • 118 a.a.
蛋白主名 其他名称

cytochrome c oxidase assembly protein COX20, mitochondrial

COX20 Cox2 chaperone homolog

关联疾病

疾病名称 别名
Mitochondrial Complex Iv Deficiency, Nuclear Type 11

MC4DN11

Mitochondrial Complex 4 Deficiency, Nuclear Type 11
Isolated Cytochrome C Oxidase Deficiency

Isolated Cox Deficiency

Isolated Mitochondrial Respiratory Chain Complex Iv Deficiency
Axonal Neuropathy
Transient Neonatal Thrombocytopenia
Transient Neonatal Neutropenia
Alternating Esotropia
Alcohol-Related Neurodevelopmental Disorder

Static Encephalopathy

Arnd

Encephalopathy, Static

Alcohol Related Neurodevelopmental Disorder
Dystonia

Dystonic Disease

Dystonic Disorder

Dystonia Disorders

Neuroleptic Dyskinesia
Giant Axonal Neuropathy 1, Autosomal Recessive

Giant Axonal Neuropathy

Giant Axonal Neuropathy 1

Gan

GAN1

Giant Axonal Neuropathy-1

Neuropathy, Giant Axonal

Giant Axonal Disease

Neuropathy, Axonal, Giant, Type 1
Hypotonia
Raynaud-Claes Syndrome

Mrx49

MRXSRC

Mental Retardation, X-Linked 49

Mrx15

Clcn4-Related X-Linked Intellectual Disability Syndrome

Mental Retardation, X-Linked 15

X-Linked Mental Retardation 15

X-Linked Mental Retardation 49

Mental Retardation, X-Linked-49
Friedreich Ataxia

Friedreich Ataxia 1

FRDA

Friedreich Ataxia With Retained Reflexes

Frda1

Fa

Friedreich'S Ataxia

Hereditary Spinal Ataxia

Fa1

Friedreich'S Tabes

Hereditary Spinal Sclerosis

Spinocerebellar Ataxia, Friedreich

Friedreich Spinocerebellar Ataxia

Friedrich'S Ataxia
Mitochondrial Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency

Cox Deficiency

Cytochrome-C Oxidase Deficiency Disease

MC1DN4

Cytochrome-C Oxidase Deficiency

MC4DN1

Mitochondrial Complex I Deficiency, Nuclear Type 4

Complex 4 Mitochondrial Respiratory Chain Deficiency

Complex Iv Deficiency

Mitochondrial Complex 1 Deficiency, Nuclear Type 4

Nuclear Type Mitochondrial Complex I Deficiency 4

Deficiency Of Mitochondrial Respiratory Chain Complex4

MT-C4D

Complex Iv Mitochondrial Respiratory Chain Deficiency

Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency, Nuclear, Type 1
Spondylocarpotarsal Synostosis Syndrome

SCT

Spondylocarpotarsal Syndrome

Vertebral Fusion With Carpal Coalition

Congenital Scoliosis With Unilateral Unsegmented Bar

Congenital Synspondylism

Spondylocarpotarsal Synostosis

Synspondylism, Congenital

Scoliosis, Congenital, With Unilateral Unsegmented Bar

Scoliosis, Congenital With Unilateral Unsegmented Bar

Synspondylism Congenital

Sct Syndrome

Synspondylism
Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03063 COX20 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus COX20 VGNC VGNC:27633
Felis catus COX20 VGNC VGNC:107864
Macaca mulatta COX20 VGNC VGNC:71595
Rattus norvegicus COX20 RGD RGD:1309105
Mus musculus COX20 MGD MGI:1913609
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