COX15 - cytochrome c oxidase assembly homolog COX15 Gene

Homo sapiens

Also known as MC4DN6; CEMCOX2

Gene ID: 1355 | Gene type: protein coding

About COX15

Cytogenetic location: 10q24.2 Genomic coordinates (GRCh38): 10:99,694,293-99,732,127 (from NCBI)

This gene has 3 transcripts (splice variants), 198 orthologues and is associated with 4 phenotypes. Ubiquitous expression in adrenal (RPKM 6.2), kidney (RPKM 6.1) and 25 other tissues.

Summary

Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes a protein which is not a structural subunit, but may be essential for the biogenesis of COX formation and may function in the hydroxylation of heme O, according to the yeast mutant studies. This protein is predicted to contain 5 transmembrane domains localized in the mitochondrial inner membrane. Alternative splicing of this gene generates two transcript variants diverging in the 3' region. [provided by RefSeq, Jul 2008]

COX15 Products(10)

mRNA	Protein	Name
NM_001320974.2	NP_001307903.1	cytochrome c oxidase assembly protein COX15 homolog isoform 2
NM_001320975.2	NP_001307904.1	cytochrome c oxidase assembly protein COX15 homolog isoform 3
NM_001320976.2	NP_001307905.1	cytochrome c oxidase assembly protein COX15 homolog isoform 4
NM_001372024.1	NP_001358953.1	cytochrome c oxidase assembly protein COX15 homolog isoform 5
NM_001372025.1	NP_001358954.1	cytochrome c oxidase assembly protein COX15 homolog isoform 6
NM_001372026.1	NP_001358955.1	cytochrome c oxidase assembly protein COX15 homolog isoform 7
NM_001372027.1	NP_001358956.1	cytochrome c oxidase assembly protein COX15 homolog isoform 8
NM_001372028.1	NP_001358957.1	cytochrome c oxidase assembly protein COX15 homolog isoform 3
NM_004376.7	NP_004367.2	cytochrome c oxidase assembly protein COX15 homolog isoform 2
NM_078470.6	NP_510870.1	cytochrome c oxidase assembly protein COX15 homolog isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables oxidoreductase activity, acting on the CH-CH group of donors	IMP IMP: Inferred from mutant phenotype	12474143	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	29128334	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cytochrome complex assembly	IMP IMP: Inferred from mutant phenotype	12474143	GOA
involved in heme A biosynthetic process	IGI IGI: Inferred from genetic interaction	12474143	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of cytochrome complex	IDA IDA: Inferred from direct assay	12474143	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	9878253	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

COX15 Protein Structure

COX15-CtaA

0
100
200
300
410 a.a.

Protein Preferred Names

Protein Names

cytochrome c oxidase assembly protein COX15 homolog

COX15 homolog, cytochrome c oxidase assembly protein

COX15 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	COX15	Q7KZN9	PRDX6	Homo sapiens	P30041	Anti Bait CoIP	29128334
Intra	COX15	Q7KZN9	PRDX6	Homo sapiens	P30041	Crosslink	29128334

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Mitochondrial Complex Iv Deficiency, Nuclear Type 6

Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 2	MC4DN6
Cemcox2	Fatal Infantile Cardioencephalomyopathy Due To Cytochrome C Oxidase Deficiency 2
Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency, Type 2

Leigh Syndrome With Leukodystrophy

Infantile Subacute Necrotizing Encephalopathy With Leukodystrophy

Leigh Disease With Leukodystrophy

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

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

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

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

Charcot-Marie-Tooth Disease, Type 4k

Charcot-Marie-Tooth Disease Type 4k	CMT4K
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k	Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k
Surf1-Related Charcot-Marie-Tooth Disease Type 4	Surf1-Related Cmt4
Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease	Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k
Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k	Charcot-Marie-Tooth Disease 4k
Charcot-Marie-Tooth Disease, Demyelinating, Type 4k	Charcot-Marie-Tooth Neuropathy, Type 4k

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

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

Gracile Syndrome

Finnish Lethal Neonatal Metabolic Syndrome	Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death
Flnms	Fellman Syndrome
Fellman Disease	Finnish Lactic Acidosis With Hepatic Hemosiderosis
Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome	Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome
Lactic Acidosis, Finnish, With Hepatic Hemosiderosis	Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death
GRACILE

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Kearns-Sayre Syndrome

Ophthalmoplegia	Mitochondrial Cytopathy
KSS	Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy
Oculocraniosomatic Syndrome	Chronic Progressive External Ophthalmoplegia With Myopathy
Cpeo With Myopathy	Total Ophthalmoplegia
Ophthalmoplegia-Plus Syndrome	Ophthalmoplegia, Progressive External, With Ragged-Red Fibers
Cpeo With Ragged-Red Fibers	Oculomotor Paralysis
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O	Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna
Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia	Cpeo With Ragged Red Fibers
Ophthalmoplegia Plus Syndrome	Ophthalmoplegia, Progressive External, With Ragged Red Fibers
Kearns-Sayre Mitochondrial Cytopathy	Mitochondrial Myopathies

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

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

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy	Leber Hereditary Optic Neuropathy
LHON	Leber'S Hereditary Optic Neuropathy
Leber Optic Atrophy, Susceptibility To	Leber'S Optic Atrophy
LOAM	Loas
Leber'S Disease	Leber'S Optic Neuropathy
Optic Atrophy, Hereditary, Leber	Lhon, Modifier Of
Optic Atrophy, Leber Type	Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy	Loa
Optic Atrophy Leber Type	Leber Hereditary Optic Neuropathy, Modifier
Leber Hereditary Optic Neuropathy Susceptibility	Modifier Of Leber Hereditary Optic Neuropathy
Lebers Hereditary Optic Neuropathy	Leber Congenital Amaurosis

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome	MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes	Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

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-RS03059	COX15 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	COX15	MGD	MGI:1920112
Felis catus	COX15	VGNC	VGNC:81195
Macaca mulatta	COX15	VGNC	VGNC:81183
Canis familiaris	COX15	VGNC	VGNC:39535
Bos taurus	COX15	VGNC	VGNC:27629
Rattus norvegicus	COX15	RGD	RGD:1312043

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