1. Gene
  2. COQ9 - coenzyme Q9 Gene

COQ9 - coenzyme Q9 Gene

Homo sapiens

Also known as COQ10D5; C16orf49

Gene ID: 57017 | Gene type: protein coding

About COQ9

Cytogenetic location: 16q21 Genomic coordinates (GRCh38): 16:57,447,479-57,461,270 (from NCBI)

This gene has 16 transcripts (splice variants), 212 orthologues and is associated with 3 phenotypes. Ubiquitous expression in heart (RPKM 47.9), kidney (RPKM 39.3) and 25 other tissues.

Summary

This locus represents a mitochondrial ubiquinone biosynthesis gene. The encoded protein is likely necessary for biosynthesis of coenzyme Q10, as mutations at this locus have been associated with autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency.[provided by RefSeq, Sep 2010]

COQ9 Products(1)

mRNA Protein Name
NM_020312.4 NP_064708.1 ubiquinone biosynthesis protein COQ9, mitochondrial precursor

COQ9 Protein Structure

COQ9

COQ9: COQ9 (210 - 286)

  • 0
  • 100
  • 200
  • 300
  • 318 a.a.
Protein Preferred Names Protein Names

ubiquinone biosynthesis protein COQ9, mitochondrial

coenzyme Q9 homolog

Related Diseases

Diseases Alias
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

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, Primary, 3

COQ10D3

Primary Coenzyme Q10 Deficiency 3

Coenzyme Q10 Deficiency, Primary, Type 3

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

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, 2

Deafness-Encephaloneuropathy-Obesity-Valvulopathy Syndrome

COQ10D2

Primary Coenzyme Q10 Deficiency 2

Hearing Loss-Encephaloneuropathy-Obesity-Valvulopathy Syndrome

Coenzyme Q10 Deficiency, Primary, Type 2

Combined Oxidative Phosphorylation Deficiency 33

COXPD33

Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type

MRXSBL

Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance

X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance

Mental Retardation, X-Linked 60, Formerly

Mrx60, Formerly

Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type

Mrx60

Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance

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

Encephalopathy, Ethylmalonic

Ethylmalonic Encephalopathy

EE

Epema Syndrome

Encephalopathy, Petechiae, And Ethylmalonic Aciduria

Ethe1 Deficiency

Eme

Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria

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

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 Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta Type I

OI1

Oi, Type I

Osteogenesis Imperfecta Tarda

Osteogenesis Imperfecta With Blue Sclerae

Osteogenesis Imperfecta Type 1

Adair-Dighton Syndrome

Mild Osteogenesis Imperfecta

Non-Deforming Osteogenesis Imperfecta

Oi Type 1

Van Der Hoeve Syndrome

Classic Non-Deforming Oi With Blue Sclerae

Osteogenesis Imperfecta 1

Oi-I

Osteopenic Non-Fracture Syndrome

Osteogenesis Imperfecta, Mild

Osteogenesis Imperfecta

Lobstein'S Disease

Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

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 Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

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

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

Orthologs Information

Species Symbol Source ID
Felis catus COQ9 VGNC VGNC:61100
Mus musculus COQ9 MGD MGI:1915164
Rattus norvegicus COQ9 RGD RGD:1586040
Canis familiaris COQ9 VGNC VGNC:39525
Bos taurus COQ9 VGNC VGNC:27618