ACADS - acyl-CoA dehydrogenase short chain Gene

Homo sapiens

Also known as SCAD; ACAD3

Gene ID: 35 | Gene type: protein coding

About ACADS

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:120,725,826-120,740,008 (from NCBI)

This gene has 3 transcripts (splice variants), 212 orthologues, 14 paralogues and is associated with 3 phenotypes. Broad expression in duodenum (RPKM 34.4), fat (RPKM 33.7) and 25 other tissues.

Summary

This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This Enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]

ACADS Products(2)

mRNA	Protein	Name
NM_000017.4	NP_000008.1	short-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 1 precursor
NM_001302554.2	NP_001289483.1	short-chain specific acyl-CoA dehydrogenase, mitochondrial isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables acyl-CoA dehydrogenase activity	IDA IDA: Inferred from direct assay	3597357	GOA
enables acyl-CoA dehydrogenase activity	IMP IMP: Inferred from mutant phenotype	11134486	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	28514442	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA IDA: Inferred from direct assay	3597357	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in mitochondrion	IDA IDA: Inferred from direct assay	16729965	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

ACADS Protein Structure

Acyl-CoA_dh_N

Acyl-CoA_dh_M

Acyl-CoA_dh_1

0
100
200
300
412 a.a.

Protein Preferred Names

Protein Names

short-chain specific acyl-CoA dehydrogenase, mitochondrial

acyl-CoA dehydrogenase, C-2 to C-3 short chain

Related Diseases

Diseases

Alias

Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of

Scad Deficiency	Acads Deficiency
Lipid-Storage Myopathy Secondary To Short-Chain Acyl-Coa Dehydrogenase Deficiency	Scadh Deficiency
Short-Chain Acyl-Coa Dehydrogenase Deficiency	Deficiency Of Butyryl-Coa Dehydrogenase
Short Chain Acyl-Coa Dehydrogenase Deficiency	ACADSD
Scadd	Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Acyl-Coa Dehydrogenase, Short Chain, Deficiency Of	Acyl-Coa Dehydrogenase Short-Chain Deficiency

Encephalopathy, Ethylmalonic

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

Muscular Lipidosis

Lipid Storage Myopathy

Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of

Mcad Deficiency	Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency
Acadm Deficiency	Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of
Medium Chain Acyl-Coa Dehydrogenase Deficiency	ACADMD
Mcadh Deficiency	Mcadd
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency	Acyl-Coa Dehydrogenase Medium-Chain Deficiency
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency	Medium Chain Acyl Dehydrogenase Deficiency

Organic Acidemia

Organic Aciduria	Disorder Of Organic Acid Metabolism
Organic Acid Metabolism Disorder	Organic Acidemias
Inherited Organic Acidemia	Organic Acidurias
Aciduria Organic

Isovaleric Acidemia

Isovaleric Acid Coa Dehydrogenase Deficiency	Isovaleryl-Coa Dehydrogenase Deficiency
IVA	Ivd Deficiency
Acidemia, Isovaleric	Isovaleric Aciduria
Isovaleryl Coa Carboxylase Deficiency	Isovaleric Acid-Coa Dehydrogenase Deficiency

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

Riboflavin Deficiency

Ariboflavinosis	Maternal Riboflavin Deficiency
RBFVD	Vitamin B2 Deficiency
Hyporiboflavinosis

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

Myopathy

Muscular Diseases

Myopathies

Carnitine Palmitoyltransferase Ii Deficiency, Infantile

Carnitine Palmitoyltransferase Ii Deficiency	Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset	Carnitine Palmitoyltransferase Ii Deficiency With Hypoketotic Hypoglycemia
Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular	Cpt Ii Deficiency, Hepatic
Cpt2 Deficiency, Infantile	Cpt Ii Deficiency, Infantile
Cpt Ii Deficiency	Carnitine Palmitoyltransferase 2 Deficiency
Cpt2	Carnitine Palmitoyltransferase Deficiency Type 2
Carnitine Palmitoyl Transferase 2 Deficiency	Cpt-Ii
Infantile Carnitine Palmitoyltransferase Ii Deficiency	Late-Onset Carnitine Palmitoyltransferase Ii Deficiency
Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency	Carnitine Palmitoyltransferase Ii Deficiency
Cpt2 Deficiency	Cptii
Cpt2, Hepatocardiomuscular Form	Cpt2, Severe Infantile Form
Cptii, Hepatocardiomuscular Form	Cptii, Severe Infantile Form
Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form	Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form
Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form	Carnitine Palmitoyltransferase 2 Deficiency, Infantile
CPT2DI	Cpt Deficiency, Hepatic, Type Ii
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

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

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

Diverticulitis Of Colon

Colonic Diverticular Disease	Diverticulitis, Colonic
Diverticular Disease Of Colon

Ischemic Colitis

Colitis, Ischemic

Irreversible Ischaemic Colitis

Spinocerebellar Ataxia, X-Linked 2

Scax2	X-Linked Spinocerebellar Ataxia 2
Cerebellar Ataxia With Extrapyramidal Involvement Early-Onset	Cerebellar Ataxia With Extrapyramidal Involvement, Early-Onset
Spinocerebellar Ataxia X-Linked Type 2

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

Nuclear Type Mitochondrial Complex I Deficiency

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

Carnitine Palmitoyltransferase I Deficiency

Carnitine Palmitoyl Transferase 1a Deficiency	Cpt1a Deficiency
Cpt I Deficiency	Carnitine Palmitoyl Transferase Ia Deficiency
Hepatic Carnitine Palmitoyl Transferase 1 Deficiency	Hepatic Carnitine Palmitoyl Transferase I Deficiency
L-Cpt1 Deficiency	Carnitine Palmitoyltransferase 1a Deficiency
Carnitine Palmitoyltransferase Ia Deficiency	Cpt Deficiency, Hepatic, Type I
Cpt Deficiency, Hepatic, Type Ia	Hepatic Carnitine Palmitoyltransferase 1 Deficiency
L-Cpti Deficiency	Hepatic Cpt Deficiency Type I
Hepatic Cpt1	L-Cpt 1 Deficiency
Cpt 1a Deficiency	Liver Form Of Carnitine Palmitoyltransferase Deficiency
CPT1AD	Cpt-I Deficiency

Galactosemia I

Galactosemia	Galt Deficiency
Classic Galactosemia	Galactose-1-Phosphate Uridylyltransferase Deficiency
Galactose-1-Phosphate Uridyltransferase Deficiency	GALAC1
Galactosemia, Classic	Galactosemia Type 1
Galactosemias	Classical Galactosemia
Galactosaemia	Galactose Intolerance
Epimerase Deficiency Galactosemia	Galactokinase Deficiency Disease
Galactose Epimerase Deficiency	Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease
Gale Deficiency	Galk Deficiency
Udp-Galactose-4-Epimerase Deficiency Disease	Utp Hexose-1-Phosphate Uridylyltransferase Deficiency
Galactosemia 1	Galactosemia, Duarte Variant
Deficiency Of Galactokinase	Udpglucose 4-Epimerase Deficiency Disease
Classical Galactosaemia	Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency
Classic Galactosaemia	Deficiency Of Hexose-1-Phosphate Uridylyltransferase
Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase	Deficiency Of Galactose-1-Phosphate Uridylyltransferase
Galactose-1-Phosphate Uridyl Transferase Deficiency	Transferase Deficiency Galactosemia
Deficiency Of Uridyl Transferase	Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase
Utp-Hexose-1-Phosphate Uridyltransferase Deficiency

3-Methylcrotonyl-Coa Carboxylase Deficiency

3-Methylcrotonylglycinuria	Mcc Deficiency
Methylcrotonyl-Coa Carboxylase Deficiency	Bmcc Deficiency
3-Mcc Deficiency	3mcc
Mccd	3mcc Deficiency
Isolated 3-Methylcrotonyl-Coa Carboxylase Deficiency	3-Mcc
3-Methylcrotonyl-Coenzyme A Carboxylase Deficiency	Deficiency Of Methylcrotonoyl-Coa Carboxylase
3-Methyl Crotonyl-Coa Carboxylase Deficiency	3-Methylcrotonyl Coa Carboxylase 1 Deficiency

Citrullinemia, Classic

Citrullinemia	Classic Citrullinemia
Argininosuccinate Synthetase Deficiency	Ass Deficiency
Citrullinemia Type I	CTLN1
Citrullinuria	Citrullinemia, Type I
Argininosuccinic Acid Synthetase Deficiency	Ctnl1
Citrullinemia 1	Deficiency Of Citrulline-Aspartate Ligase
Cit	Argininosuccinate Synthase Deficiency
Argininosuccinic Acid Synthase Deficiency	Citrullinemia Type 1
Citrullinemia Classical

Spinocerebellar Ataxia, Autosomal Recessive 3

SCAR3	Scabd
Autosomal Recessive Spinocerebellar Ataxia Type 3	Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Hearing Loss Syndrome	Spinocerebellar Ataxia With Blindness And Deafness
Autosomal Recessive Spinocerebellar Ataxia 3	Spinocerebellar Ataxia Autosomal Recessive 3
Autosomal Recessive Cerebellar Ataxia - Blindness - Deafness	Autosomal Recessive Cerebellar Ataxia-Blindness-Deafness Syndrome

Diverticulitis

Biotinidase Deficiency

Late-Onset Multiple Carboxylase Deficiency	BTD DEFICIENCY
Multiple Carboxylase Deficiency, Late-Onset	Multiple Carboxylase Deficiency, Juvenile-Onset
Juvenile-Onset Multiple Carboxylase Deficiency	Biotin Deficiency
Late-Onset Biotin-Responsive Multiple Carboxylase Deficiency	Deficiency Of Biotinidase
Biot	Carboxylase Deficiency, Multiple, Late-Onset
Late-Onset Mcd	Mcd Juvenile Form
Biotin Deficiency Disease

Carnitine-Acylcarnitine Translocase Deficiency

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

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

Diversion Colitis

Malignant Hyperthermia

Anesthesia Related Hyperthermia	Malignant Hyperpyrexia Due To Anesthesia
Hyperpyrexia, Malignant	Hyperthermia, Malignant
Malignant Hyperpyrexia	Mhs
Malignant Fever

Multiple Carboxylase Deficiency

Mcd	Holocarboxylase Synthetase Deficiency

Glutaric Acidemia I

Glutaryl-Coa Dehydrogenase Deficiency	GA1
Glutaric Acidemia Type 1	Glutaric Aciduria 1
Glutaric Aciduria Type 1	Glutaric Acidemia Type I
Glutaric Aciduria, Type 1	Glutaric Aciduria I
Ga I	Glutaricaciduria, Type I
Glutaryl-Coenzyme A Dehydrogenase Deficiency	Glutaric Academia Type 1
Glutaric Aciduria Type I	Ga-1
Gcdh Deficiency	Ga 1
Glutaric Acidemia 1	Gcdhd
Glutaric Aciduria, Type I	Glutaricaciduria I
Ga-I	Glutaricaciduria, Type 1

Hypermethioninemia

Hepatic Methionine Adenosyltransferase Deficiency	Deficiency Of Methionine Adenosyltransferase
Glycine N-Methyltransferase Deficiency	Met
S-Adenosylhomocysteine Hydrolase Deficiency	Gnmt Deficiency
Mat Deficiency	Methionine Adenosyltransferase Deficiency
Methioninemia	Deficiency Of Acetyl-Coa Acetyltransferase

Alpha-Methylacetoacetic Aciduria

Beta-Ketothiolase Deficiency	3-Ketothiolase Deficiency
3-Oxothiolase Deficiency	Mitochondrial Acetoacetyl-Coa Thiolase Deficiency
Alpha-Methylacetoaceticaciduria	Mat Deficiency
T2 Deficiency	2-Methyl-3-Hydroxybutyricacidemia
Beta Ketothiolase Deficiency	Pseudo-Zellweger Syndrome
2-Methyl-3-Hydroxybutyric Acidemia	3-Ktd Deficiency
Peroxisomal Thiolase Deficiency	2-Methylacetoacetyl-Coenzyme A Thiolase Deficiency
3-Alpha-Oxothiolase Deficiency	Methylacetoacetyl-Coenzyme A Thiolase Deficiency
Mitochondrial 2-Methylacetoacetyl-Coa Thiolase Deficiency - Potassium Stimulated	Β-Ketothiolase Deficiency
Alpha Methylacetoacetic Aciduria	Alpha-Methyl-Acetoacetyl-Coa Thiolase Deficiency
Mitochondrial Acetoacetyl-Coenzyme A Thiolase Deficiency	3KTD
Aciduria, Alpha-Methylacetoacetic	Deficiency Of Acetyl-Coa Acetyltransferase
Deficiency Of Acetyl-Coa Acyltransferase	Hepatic Methionine Adenosyltransferase Deficiency
Bifunctional Peroxisomal Enzyme Deficiency

Propionic Acidemia

Ketotic Hyperglycinemia	Propionyl-Coa Carboxylase Deficiency
Pcc Deficiency	Propionicacidemia
Glycinemia, Ketotic	Hyperglycinemia With Ketoacidosis And Leukopenia
Ketotic Glycinemia	Propionic Aciduria
Prop	Acidemia, Propionic
PA-1	Ketotic Ii Glycinemia
Hyperglycinemia, Ketotic	Propionic Acidemia Type I
Propionic Acidemia Type Ii	PA-2
Propionicaciduria

Urea Cycle Disorder

Urea Cycle Disorders	Urea Cycle Disorders, Inborn
Disorder Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia	Disorder Of Urea Cycle Metabolism
Urea Cycle Defect	Ucd
Disorder Of The Urea Cycle Metabolism	Disorder Of Urea Cycle
Disorders Of Metabolism Of Ornithine, Citrulline, Argininosuccinic Acid, Arginine And Ammonia	Ammonia Metabolic Disorder

Maple Syrup Urine Disease

MSUD	Bckd Deficiency
Branched-Chain Ketoaciduria	Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency
Keto Acid Decarboxylase Deficiency	Maple Syrup Urine Disease, Type Ii
Branched Chain Ketoaciduria	Classic Maple Syrup Urine Disease
Intermittent Maple Syrup Urine Disease	Maple Syrup Urine Disease, Type Ia
Ketoacidaemia	Bckdh Deficiency
Branched-Chain 2-Ketoacid Dehydrogenase Deficiency	Thiamine-Responsive Maple Syrup Urine Disease
Intermediate Maple Syrup Urine Disease	Maple Syrup Urine Disease Type 1a
Maple Syrup Urine Disease Type 1b	Maple Syrup Urine Disease Type 2
Maple Syrup Urine Disease, Type Ib	Dihydrolipoamide Dehydrogenase Deficiency
Branched-Chain Ketoacid Dehydrogenase Deficiency	Maple Syrup Disease
Ketoacidemia	Classic Bckd Deficiency
Classic Msud	Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Classic Branched-Chain Ketoaciduria	Thiamine-Responsive Bckd Deficiency
Thiamine-Responsive Msud	Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency
Intermittent Bckd Deficiency	Intermittent Msud
Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency	Maple Syrup Urine Disease 1a
MSUD1A	Maple Syrup Urine Disease Type Ia
Msud Type Ia	Maple Syrup Urine Disease 1b
MSUD1B	Maple Syrup Urine Disease Type Ib
Msud Type Ib	Maple Syrup Urine Disease 2
MSUD2	Maple Syrup Urine Disease Type Ii
Msud Type Ii	Nadh Cytochrome B5 Reductase Deficiency
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency	Ketonemia
Maple Syrup Urine Disease, Type 1b	Ketoacid Decarboxylase Deficiency
Oxoacid Decarboxylase Deficiency	Branched Chain Ketoacid Dehydrogenase Deficiency
Msud - [Maple-Syrup-Urine Disease]	Ketoaminoacidaemia
Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency]	Maple-Syrup-Urine Disorder
Maple-Syrup-Urine Syndrome

Methylmalonic Acidemia

Methylmalonic Aciduria	Mma
Acidemia, Methylmalonic	Isolated Methylmalonic Acidemia

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

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

Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome	PWS
Willi-Prader Syndrome	Prader-Willi Syndrome Due To Translocation
Prader-Willi Syndrome Due To Imprinting Mutation	Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Prader Willi Syndrome	Upd(15)Mat

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00123	ACAD10 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS00124	ACAD11 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS00125	ACAD8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS00126	ACAD9 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS00129	ACADS Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	ACADS	VGNC	VGNC:52915
Rattus norvegicus	ACADS	RGD	RGD:620514
Mus musculus	ACADS	MGD	MGI:87868
Bos taurus	ACADS	VGNC	VGNC:53886
Felis catus	ACADS	VGNC	VGNC:80418
Macaca mulatta	ACADS	VGNC	VGNC:81342