COX20 - cytochrome c oxidase assembly factor COX20 Gene

Homo sapiens

Also known as FAM36A; MC4DN11

Gene ID: 116228 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

DUF3767

0
100
118 a.a.

Protein Preferred Names

Protein Names

cytochrome c oxidase assembly protein COX20, mitochondrial

COX20 Cox2 chaperone homolog

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03063	COX20 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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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