COQ6 - coenzyme Q6, monooxygenase Gene

Also Known as CGI10; CGI-10; COQ10D6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 51004

About COQ6

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:73,949,926-73,963,670 (from NCBI)

This gene has 20 transcripts (splice variants), 208 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in adrenal (RPKM 8.7), testis (RPKM 8.2) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic Antioxidants implicated in the protection of cell damage by Reactive Oxygen Species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased Apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]

COQ6 Products (2)

mRNA	Protein	Name
NM_182476.3	NP_872282.1	ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform a
NM_182480.3	NP_872286.2	ubiquinone biosynthesis monooxygenase COQ6, mitochondrial isoform b

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	27499296	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	27499296	GOA
part of ubiquinone biosynthesis complex	IPI IPI: Inferred from physical interaction	27499296	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

COQ6 Protein Structure

FAD_binding_3

0
100
200
300
400
468 a.a.

Protein Preferred Names	Protein Names
ubiquinone biosynthesis monooxygenase COQ6, mitochondrial	coenzyme Q10 monooxygenase 6

COQ6 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	COQ6	Q9Y2Z9	COQ3	Homo sapiens	Q9NZJ6	Pull Down	27499296
Intra	COQ6	Q9Y2Z9	COQ7	Homo sapiens	Q99807	Pull Down	27499296
Intra	COQ6	Q9Y2Z9	COQ4	Homo sapiens	Q9Y3A0	Pull Down	27499296
Intra	COQ6	Q9Y2Z9	COQ5	Homo sapiens	Q5HYK3	Anti Tag CoIP	27499296
Intra	COQ6	Q9Y2Z9	COQ5	Homo sapiens	Q5HYK3	Pull Down	27499296

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Coenzyme Q10 Deficiency, Primary, 6	Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness COQ10D6 Primary Coenzyme Q10 Deficiency 6 Familial Steroid-Resistant Nephrotic Syndrome With Sensorineural Hearing Loss Srns With Sensorineural Deafness Steroid-Resistant Nephrotic Syndrome With Sensorineural Deafness Coenzyme Q10 Deficiency, Primary, Type 6
Neurilemmomatosis	Schwannomatosis Neurofibromatosis Type 3 Nf3 Neurilemmomatosis Congenital Cutaneous Neurinomatosis Congenital Cutaneous Neurilemmomatosis Multiple Neurilemmomas Multiple Schwannomas Neurilemmomatosis, Congenital Cutaneous Schwannomatosis 1 Neurofibromatosis 3 Mixed Central And Peripheral Neurofibromatosis Nf3 - [Neurofibromatosis Type 3]
Nephrotic Syndrome	Finnish Congenital Nephrotic Syndrome Ns - [Nephrotic Syndrome] Nephrosis Syndrome Nephrosis Nos Glomerular Lesion Nephrosis
Focal Segmental Glomerulosclerosis	Familial Idiopathic Steroid-Resistant Nephrotic Syndrome Focal Glomerulosclerosis Fsgs Segmental Glomerulosclerosis Glomerulosclerosis, Focal Segmental Fgs Focal Glomerular Sclerosis Familial Idiopathic Nephrotic Syndrome Focal Sclerosis With Hyalinosis Glomerulosclerosis, Focal Glomerulosclerosis Focal Glomerulosclerosis, Segmental, Focal Focal Segmental Glomerulosclerosis, Not Otherwise Specified
Coenzyme Q10 Deficiency, Primary, 7	Neonatal Encephalomyopathy-Cardiomyopathy-Respiratory Distress Syndrome COQ10D7 Primary Coenzyme Q10 Deficiency 7 Coq4-Related Neonatal Encephalomyopathy Coenzyme Q10 Deficiency, Primary, Type 7
Coenzyme Q10 Deficiency Disease	Coenzyme Q10 Deficiency Coq10 Deficiency Primary Coenzyme Q10 Deficiency Coenzyme Q Deficiency Coq Deficiency Primary Coq10 Deficiency Ubiquinone Deficiency Coenzyme Q10 Deficiency, Primary Coq10 Deficiency, Primary
Coenzyme Q10 Deficiency, Primary, 3	COQ10D3 Primary Coenzyme Q10 Deficiency 3 Coenzyme Q10 Deficiency, Primary, Type 3
Coenzyme Q10 Deficiency, Primary, 5	Encephalopathy-Hypertrophic Cardiomyopathy-Renal Tubular Disease Syndrome COQ10D5 Primary Coenzyme Q10 Deficiency 5 Coenzyme Q10 Deficiency, Primary, Type 5
Coenzyme Q10 Deficiency, Primary, 4	Scar9 Spinocerebellar Ataxia, Autosomal Recessive 9 Autosomal Recessive Ataxia Due To Ubiquinone Deficiency COQ10D4 Arca2 Autosomal Recessive Cerebellar Ataxia Type 2 Primary Coenzyme Q10 Deficiency 4 Autosomal Recessive Ataxia Due To Coenzyme Q10 Deficiency Autosomal Recessive Spinocerebellar Ataxia Type 9 Autosomal Recessive Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Autosomal Recessive 9 Coenzyme Q10 Deficiency, Primary, Type 4 Ataxia, Spinocerebellar, Autosomal Recessive, Type 9
Microphthalmia, Isolated 2	Isolated Microphthalmia 2 MCOP2 Anophthalmia, Clinical, Isolated Microphthalmia, Isolated, 2 Isolated Clinical Anophthalmia Microphthalmia, Isolated, Type 2
Coenzyme Q10 Deficiency, Primary, 2	Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome COQ10D2 Primary Coenzyme Q10 Deficiency 2 Hearing Loss-Encephaloneuropathy-Obesity-Valvulopathy Syndrome Coenzyme Q10 Deficiency, Primary, Type 2
Gonadoblastoma	GBY
Frasier Syndrome	FS
Multiple Acyl-Coa Dehydrogenase Deficiency	MADD Ethylmalonic-Adipicaciduria Ema Glutaric Acidemia Iia Glutaric Acidemia Iib Ga Ii Glutaric Acidemia Iic Glutaric Acidemia Type 2 Glutaric Acidemia Ii Glutaric Aciduria Ii Electron Transfer Flavoprotein Deficiency Glutaric Aciduria Type 2 Mad Deficiency Glutaric Acidemia Type Ii Glutaric Aciduria 2 Etfa Deficiency Etfb Deficiency Etfdh Deficiency Multiple Acyl Coenzyme A Dehydrogenase Deficiency Ga2 Electron Transfer Flavoprotein Ubiquinone Oxidoreductase Deficiency Electron Transfer Flavoprotein Dehydrogenase Deficiency Ga 2 Glutaric Acidemia 2 Glutaric Acidemia, Type 2 Glutaric Aciduria, Type 2 Mad Multiple Fad Dehydrogenase Deficiency Ethylmalonic Adipic Aciduria Glutaricaciduria Ii Glutaric Aciduria 2a GA2A Gaiia Glutaricaciduria Iia Glutaric Aciduria 2b GA2B Gaiib Glutaricaciduria Iib Glutaric Aciduria 2c GA2C Gaiic Glutaricaciduria Iic Glutaricaciduria, Type Iia Glutaric Acidemia Type 2a Glutaric Acidemia Type 2c Glutaric Aciduria Iia Glutaric Aciduria Iib Glutaric Aciduria Iic
Galloway-Mowat Syndrome	Galloway Mowat Syndrome Galloway Syndrome Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type Microcephaly Nephrosis Syndrome Microcephaly, Hiatal Hernia, And Nephrotic Syndrome Nephrosis Neuronal Dysmigration Syndrome Microcephaly-Hiatus Hernia-Nephrotic Syndrome Nephrosis-Neuronal Dysmigration Syndrome
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
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
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
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
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency

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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-W012575	2,4-Dihydroxybenzoic acid	Inhibitor	99.90%	Unkown
HY-RS03042	COQ6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	COQ6	VGNC	VGNC:71239
Felis catus	COQ6	VGNC	VGNC:61097
Rattus norvegicus	COQ6	RGD	RGD:1311149
Canis familiaris	COQ6	VGNC	VGNC:39521
Mus musculus	COQ6	MGD	MGI:1924408
Bos taurus	COQ6	VGNC	VGNC:27614
Others	COQ6	NCBI