ACADS - acyl-CoA dehydrogenase short chain Gene

Also Known as SCAD; ACAD3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 35

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
Molecular Function GO Annotation Evidence References 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 References Source
involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA
IDA: Inferred from direct assay
3597357 GOA
Cellular Component GO Annotation Evidence References 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_N: Acyl-CoA dehydrogenase, N-terminal domain (36 - 147)

Acyl-CoA_dh_M

Acyl-CoA_dh_M: Acyl-CoA dehydrogenase, middle domain (151 - 202)

Acyl-CoA_dh_1

Acyl-CoA_dh_1: Acyl-CoA dehydrogenase, C-terminal domain (258 - 406)

  • 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

ACADS Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ACADS P16219 DPEP1 Homo sapiens P16444 33961781
Intra
ACADS P16219 DPEP1 Homo sapiens P16444 28514442
Cross: Cross-species interaction Intra: Intraspecies interaction

ACADS Antibodies

Cat. No. Product Name Application Reactivity
HY-P82224 ACADS Antibody (YA1969) WB, IHC-P, IP Human, Mouse, Rat
HY-P82224A ACADS Antibody (YA1969)(PBS only) WB, IHC-P, IP Human, Mouse, Rat

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

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
Others ACADS NCBI