COA5 - cytochrome c oxidase assembly factor 5 Gene

Homo sapiens

Also known as MC4DN9; Pet191; C2orf64; CEMCOX3; 6330578E17Rik

Gene ID: 493753 | Gene type: protein coding

About COA5

Cytogenetic location: 2q11.2 Genomic coordinates (GRCh38): 2:98,599,314-98,608,512 (from NCBI)

This gene has 5 transcripts (splice variants), 176 orthologues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 12.5), kidney (RPKM 12.0) and 25 other tissues.

Summary

This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. [provided by RefSeq, Dec 2011]

COA5 Products(1)

mRNA	Protein	Name
NM_001008215.3	NP_001008216.1	cytochrome c oxidase assembly factor 5

COA5 Protein Structure

Pet191_N

0
74 a.a.

Protein Preferred Names

Protein Names

cytochrome c oxidase assembly factor 5

protein C2orf64

Related Diseases

Diseases

Alias

Mitochondrial Complex Iv Deficiency, Nuclear Type 9

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 3	MC4DN9
Cemcox3	Mitochondrial Complex Iv, Deficiency, Nuclear Type 9
Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency 3

Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency	Fatal Infantile Cox Deficiency
Fatal Infantile Cytochrome C Oxidase Deficiency	Fatal Infantile Encephalocardiomyopathy

Neuropathy, Ataxia, And Retinitis Pigmentosa

Narp Syndrome	NARP
Neurogenic Muscle Weakness, Ataxia, And Retinitis Pigmentosa	Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome
Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome	Neuropathy, Ataxia And Retinitis Pigmentosa
Neuropathy Ataxia Retinitis Pigmentosa Syndrome	Neuropathy, Ataxia, And Retinitis Pigmentos
Neuropathy Ataxia And Retinitis Pigmentosa	Neuropathy, Ataxia, Retinitis Pigmentosa
Neuropathy Ataxia And Retinis Pigmentosa	Narp - [Neuropathy, Ataxia And Retinitis Pigmentosa] Syndrome

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy	Cardiomyopathy, Hypertrophic
Cardiomyopathy Hypertrophic Obstructive	Cardiomyopathy, Hypertrophic, Familial
Idiopathic Myocardial Hypertrophy	Idiopathic Hypertrophic Cardiomyopathy
Obstructive Idiopathic Hypertrophic Cardiomyopathy	Obstructive Cardiomyopathy
Idiopathic Hypertrophic Subaortic Stenosis	Muscular Subaortic Stenosis
Hypertrophic Obstructive Subaortic Stenosis

Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis

SANDO	Mitochondrial Recessive Ataxia Syndrome
Spinocerebellar Ataxia With Epilepsy	Epilepsy, Progressive Myoclonic 5
Epm5	Miras
SCAE	Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions	Progressive Myoclonic Epilepsy Type 5
Pme Type 5	Progressive Myoclonus Epilepsy Type 5
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Recessive Mitochondrial Ataxia Syndrome
Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis	Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
Mscae	Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy	Epilepsy, Progressive Myoclonic, 5
Ataxia Neuropathy Spectrum

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

Mitochondrial Complex Ii Deficiency

Isolated Mitochondrial Respiratory Chain Complex Ii Deficiency	Isolated Succinate-Coenzyme Q Reductase Deficiency
Isolated Succinate-Coq Reductase Deficiency	Isolated Succinate-Ubiquinone Reductase Deficiency
Mitochondrial Respiratory Chain Complex Ii Deficiency	Complex 2 Mitochondrial Respiratory Chain Deficiency
Succinate Coq Reductase Deficiency	Succinate Dehydrogenase Deficiency
Isolated Succinate Dehydrogenase Deficiency	Succinate-Coenzyme Q Reductase Deficiency

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

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02942	COA5 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	COA5	VGNC	VGNC:39443
Rattus norvegicus	COA5	RGD	RGD:1565095
Mus musculus	COA5	MGD	MGI:1923428
Bos taurus	COA5	VGNC	VGNC:27544
Felis catus	COA5	VGNC	VGNC:61043