ACAD9 - acyl-CoA dehydrogenase family member 9 Gene

Homo sapiens

Also known as NPD002; MC1DN20

Gene ID: 28976 | Gene type: protein coding

About ACAD9

Cytogenetic location: 3q21.3 Genomic coordinates (GRCh38): 3:128,879,620-128,913,114 (from NCBI)

This gene has 30 transcripts (splice variants), 204 orthologues, 14 paralogues and is associated with 3 phenotypes. Ubiquitous expression in skin (RPKM 14.5), fat (RPKM 6.4) and 25 other tissues.

Summary

This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

ACAD9 Products(2)

mRNA	Protein	Name
NM_001410805.1	NP_001397734.1	complex I assembly factor ACAD9, mitochondrial isoform 2
NM_014049.5	NP_054768.2	complex I assembly factor ACAD9, mitochondrial isoform 1

ACAD9 Protein Structure

Acyl-CoA_dh_N

Acyl-CoA_dh_M

Acyl-CoA_dh_1

0
100
200
300
400
500
621 a.a.

Protein Preferred Names

Protein Names

complex I assembly factor ACAD9, mitochondrial

acyl-Coenzyme A dehydrogenase family, member 9

Related Diseases

Diseases

Alias

Mitochondrial Complex I Deficiency, Nuclear Type 20

Acyl-Coa Dehydrogenase 9 Deficiency	Acad9 Deficiency
MC1DN20	Mitochondrial Complex I Deficiency Due To Acad9 Deficiency
Nuclear Type Mitochondrial Complex I Deficiency 20	Acyl-Coa Dehydrogenase Family, Member 9, Deficiency Of
Mitochondrial Complex 1 Deficiency Due To Acad9 Deficiency	Deficiency Of Acyl-Coa Dehydrogenase Family Member 9
Acyl-Coa Dehydrogenase Family, Member 9, Deficiency

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

Nuclear Type Mitochondrial Complex I Deficiency

Mc1dn	Mitochondrial Complex I Deficiency, Nuclear Type
Mitochondrial Complex I Deficiency, Nuclear

Metabolic Acidosis

Combined Oxidative Phosphorylation Deficiency 33

COXPD33

Fazio-Londe Disease

Fazio-Londe Syndrome	Riboflavin Transporter Deficiency Neuronopathy
Brown-Vialetto-Van Laere Syndrome	Progressive Bulbar Palsy Of Childhood
Bulbar Palsy, Progressive, Of Childhood	Bvvls
Pontobulbar Palsy With Deafness	Progressive Bulbar Palsy With Sensorineural Deafness
Riboflavin Transporter Deficiency	FALOND
Bulbar Palsy Progressive Of Childhood	Bulbar Palsy Of Childhood, Progressive

Nephrotic Syndrome, Type 2

NPHS2	Nephrotic Syndrome, Steroid-Resistant, Autosomal Recessive
Srn1	Nephrotic Syndrome Type 2
Steroid-Resistant Autosomal Recessive Nephrotic Syndrome	Nephrotic Syndrome 2
Autosomal Recessive Steroid-Resistant Nephrotic Syndrome	Srn
Nephrotic Syndrome, Type 2, Susceptibility To	Idiopathic Nephrotic Syndrome

Brown-Vialetto-Van Laere Syndrome

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

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

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

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

Mitochondrial Trifunctional Protein Deficiency

Tfp Deficiency	MTPD
Trifunctional Protein Deficiency	Trifunctional Protein Deficiency With Myopathy And Neuropathy
Tfpd	Familial Hypertrophic Cardiomyopathy
Cardiomyopathy Familial Hypertrophic	Familial Hcm
Heritable Hypertrophic Cardiomyopathy	Mtp Deficiency
Tpa Deficiency	Trifunctional Protein Deficiency, Type 2
Abetalipoproteinemia

Encephalopathy, Ethylmalonic

Ethylmalonic Encephalopathy	EE
Epema Syndrome	Encephalopathy, Petechiae, And Ethylmalonic Aciduria
Ethe1 Deficiency	Eme
Syndrome Of Encephalopathy, Petechiae, And Ethylmalonic Aciduria

Carnitine-Acylcarnitine Translocase Deficiency

Cact Deficiency	Carnitine Acylcarnitine Translocase Deficiency
CACTD	Carnitine-Acylcarnitine Carrier Deficiency

Riboflavin Deficiency

Ariboflavinosis	Maternal Riboflavin Deficiency
RBFVD	Vitamin B2 Deficiency
Hyporiboflavinosis

Progressive Bulbar Palsy

Bulbar Palsy, Progressive	Progressive Bulbar Atrophy
Bulbar Palsy	Pbp - [Progressive Bulbar Palsy]
Progressive Bulbar Paralysis	Bulbar Paralysis
Chronic Bulbar Palsy	Chronic Bulbar Paralysis
Supranuclear Bulbar Paralysis

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

Carnitine Deficiency, Systemic Primary

Carnitine Uptake Defect	Renal Carnitine Transport Defect
Systemic Primary Carnitine Deficiency	CDSP
Systemic Carnitine Deficiency	Carnitine Transporter Deficiency
Cud	Primary Carnitine Deficiency
Carnitine Uptake Deficiency	Carnitine Deficiency, Systemic, Due To Defect In Renal Reabsorption Of Carnitine
Carnitine Deficiency, Primary	Systemic Primary Carnitine Deficiency Disease
Deficiency Of Plasma-Membrane Carnitine Transporter	Scd
Carnitine Transporter, Plasma-Membrane, Deficiency Of	Carnitine Transport Defect
Carnitine Plasma-Membrane Transporter Deficiency	Carnitine Transporter Defect
Spcd

Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of

Vlcad Deficiency	Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency	Lcad Deficiency
Very Long-Chain Acyl-Coa Dehydrogenase Deficiency	Long Chain Acyl-Coa Dehydrogenase Deficiency
ACADVLD	Acadl Deficiency
Vlcadd	Long-Chain Acyl-Coa Dehydrogenase Deficiency
Acadvl	Acyl-Coa Dehydrogenase Very Long Chain Deficiency
Very Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency	Vlcad-C
Vlcad-H	Acyl-Coa Dehydrogenase, Very Long Chain, Deficiency Of
Acyl-Coa Dehydrogenase Very Long-Chain Deficiency	Acyl-Coa Dehydrogenase Long-Chain Deficiency
Deficiency, Very Long Chain Acyl-Coa Dehydrogenase	Long Chain/Very Long Chain Acyl Coa Dehydrogenase Deficiency

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Cardiomyopathy, Infantile Hypertrophic

Infantile Hypertrophic Cardiomyopathy

CMHI

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

Barth Syndrome

3-Methylglutaconic Aciduria Type 2	BTHS
Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria	Mga Type Ii
Mga2	Mgca2
Mga Type 2	3-Methylglutaconic Aciduria Type Ii
3-Methylglutaconic Aciduria, Type Ii	Mga, Type Ii
3-Methylglutaconicaciduria Type 2	3-Methylglutaconicaciduria Type Ii
Taz Defect	3 Methylglutaconic Aciduria, Type Ii
Dnajc19 Defect	Cardioskeletal Myopathy-Neutropenia Syndrome
X-Linked Cardioskeletal Myopathy And Neutropenia	3-Alpha-Methylglutaconic Aciduria Type 2
Agm2	Cardioskeletal Myopathy-Neutropenia
Invm	Left Ventricular Non-Compaction Isolated X-Linked
Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked	Agammaglobulinemia 2, Autosomal Recessive

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 Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

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

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

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-RS00126	ACAD9 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ACAD9	VGNC	VGNC:50076
Rattus norvegicus	ACAD9	RGD	RGD:727973
Felis catus	ACAD9	VGNC	VGNC:69340
Canis familiaris	ACAD9	VGNC	VGNC:54913
Mus musculus	ACAD9	MGD	MGI:1914272
Macaca mulatta	ACAD9	VGNC	VGNC:81176

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