ACAD9 - acyl-CoA dehydrogenase family member 9 Gene

Also Known as NPD002; MC1DN20

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 28976

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables long-chain fatty acyl-CoA dehydrogenase activity	IDA IDA: Inferred from direct assay	16020546	GOA
enables medium-chain fatty acyl-CoA dehydrogenase activity	IDA IDA: Inferred from direct assay	16020546	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20816094	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in long-chain fatty acid metabolic process	IDA IDA: Inferred from direct assay	16020546	GOA
involved in medium-chain fatty acid metabolic process	IDA IDA: Inferred from direct assay	16020546	GOA
involved in mitochondrial respiratory chain complex I assembly	IMP IMP: Inferred from mutant phenotype	20816094	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in dendrite	IDA IDA: Inferred from direct assay	21237683	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	16020546	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	16020546	GOA
located in nucleus	IDA IDA: Inferred from direct assay	21237683	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

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

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00126	ACAD9 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22369	Acad9 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28892	Acad9 Rat Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	ACAD9	NCBI