ACADS Gene (Protein Coding)

Acyl-CoA Dehydrogenase Short Chain

GC12P120799
GIFtS:
47
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... See more...

Aliases for ACADS Gene

Aliases for ACADS Gene

  • Acyl-CoA Dehydrogenase Short Chain 2 3 5
  • Short-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial 3 4
  • Acyl-Coenzyme A Dehydrogenase, C-2 To C-3 Short Chain 2 3
  • Butyryl-CoA Dehydrogenase 3 4
  • SCAD 3 4
  • Mitochondrial Short-Chain Specific Acyl-CoA Dehydrogenase 3
  • Acyl-CoA Dehydrogenase, C-2 To C-3 Short Chain 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Unsaturated Acyl-CoA Reductase 3
  • EC 1.3.99.2 54
  • EC 1.3.8.1 4
  • EC 1.3.99 54
  • ACAD3 3

External Ids for ACADS Gene

Previous GeneCards Identifiers for ACADS Gene

  • GC12M120059
  • GC12P120761
  • GC12P120946
  • GC12P119575
  • GC12P119547
  • GC12P119626
  • GC12P119648
  • GC12P121163
  • GC12P118172
  • GC12P120792
  • GC12P120798
  • GC12P120762
  • GC12P120768
  • GC12P120774
  • GC12P120780
  • GC12P120786

Summaries for ACADS Gene

Entrez Gene Summary for ACADS Gene

  • 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]

GeneCards Summary for ACADS Gene

ACADS (Acyl-CoA Dehydrogenase Short Chain) is a Protein Coding gene. Diseases associated with ACADS include Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of and Muscular Lipidosis. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Carbon metabolism. Gene Ontology (GO) annotations related to this gene include flavin adenine dinucleotide binding and fatty-acyl-CoA binding. An important paralog of this gene is ACADSB.

UniProtKB/Swiss-Prot Summary for ACADS Gene

  • Introduces a double bond at position 2 in saturated acyl-CoA's of short chain length, i.e. less than 6 carbon atoms.

Additional gene information for ACADS Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACADS Gene

Genomics for ACADS Gene

GeneHancer (GH) Regulatory Elements for ACADS Gene

Promoters and enhancers for ACADS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACADS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACADS gene promoter:
  • AML1a
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • Gfi-1
  • MAZR
  • MZF-1
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for ACADS Gene

Genomic Locations for ACADS Gene
chr12:120,725,738-120,740,008
(GRCh38/hg38)
Size:
14,271 bases
Orientation:
Plus strand
chr12:121,163,538-121,177,811
(GRCh37/hg19)
Size:
14,274 bases
Orientation:
Plus strand

Genomic View for ACADS Gene

Genes around ACADS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACADS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACADS Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ACADS Gene

Proteins for ACADS Gene

Products:

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  • Protein details for ACADS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16219-ACADS_HUMAN
    Recommended name:
    Short-chain specific acyl-CoA dehydrogenase, mitochondrial
    Protein Accession:
    P16219
    Secondary Accessions:
    • P78331

    Protein attributes for ACADS Gene

    Size:
    412 amino acids
    Molecular mass:
    44297 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Homotetramer.
    Miscellaneous:
    • A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in mammalian tissues.

    Three dimensional structures from OCA and Proteopedia for ACADS Gene

neXtProt entry for ACADS Gene

Protein Expression for ACADS Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ACADS Gene

P16219:
  • IQFKLADMALALESARLLTWRAAMLKDNKK
  • QILGGMGYV
  • GCFALSEPGNGSDAGAA
  • AFGAPLTKLQ
  • QSVELPET
  • EIQRLVI
  • IAMEEISR
  • SSTANLIFEDCRIPK
  • MGYVTEMPAER
  • ITEIYEGTSE
  • GAGLDYLAY

Post-translational modifications for ACADS Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ACADS Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ACADS Gene

Gene Families for ACADS Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ACADS Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ACADS Gene

GenScript: Design optimal peptide antigens:
  • Butyryl-CoA dehydrogenase (ACADS_HUMAN)
  • Short-chain acyl-CoA dehydrogenase (D4QEZ8_HUMAN)
  • Mitochondrial short-chain specific acyl-CoA dehydrogenase (E5KSD5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P16219

UniProtKB/Swiss-Prot:

ACADS_HUMAN :
  • Belongs to the acyl-CoA dehydrogenase family.
Family:
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with ACADS: view

Function for ACADS Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
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  6. Cell Line

Molecular function for ACADS Gene

UniProtKB/Swiss-Prot Function:
Introduces a double bond at position 2 in saturated acyl-CoA's of short chain length, i.e. less than 6 carbon atoms.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a short-chain 2,3-saturated fatty acyl-CoA + H(+) + oxidized [electron-transfer flavoprotein] = a short-chain (2E)-enoyl-CoA + reduced [electron-transfer flavoprotein]; Xref=Rhea:RHEA:47196, Rhea:RHEA-COMP:10685, Rhea:RHEA-COMP:10686, ChEBI:CHEBI:15378, ChEBI:CHEBI:57692, ChEBI:CHEBI:58307, ChEBI:CHEBI:87487, ChEBI:CHEBI:87488; EC=1.3.8.1; Evidence=. ;.
GENATLAS Biochemistry:
acyl-CoA dehydrogenase,short chain (C2-C3),mitochondrial,fatty acid beta-oxidation,with a frequent variant alleles 511C-T,625G-A together conferring susceptibility to ethylmalonic aciduria

Enzyme Numbers (IUBMB) for ACADS Gene

Phenotypes From GWAS Catalog for ACADS Gene

Gene Ontology (GO) - Molecular Function for ACADS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003995 acyl-CoA dehydrogenase activity IDA 3597357
GO:0004085 butyryl-CoA dehydrogenase activity IBA 21873635
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
GO:0050660 flavin adenine dinucleotide binding IEA --
genes like me logo Genes that share ontologies with ACADS: view
genes like me logo Genes that share phenotypes with ACADS: view

Human Phenotype Ontology for ACADS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ACADS Gene

miRTarBase miRNAs that target ACADS

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACADS

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for ACADS Gene

Localization for ACADS Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACADS Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACADS gene
Compartment Confidence
mitochondrion 5
nucleus 4
cytoskeleton 2
cytosol 2
extracellular 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ACADS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA 16729965
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with ACADS: view

Pathways & Interactions for ACADS Gene

genes like me logo Genes that share pathways with ACADS: view

UniProtKB/Swiss-Prot P16219-ACADS_HUMAN

  • Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process for ACADS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006635 fatty acid beta-oxidation TAS --
GO:0033539 fatty acid beta-oxidation using acyl-CoA dehydrogenase IDA 3597357
GO:0046359 butyrate catabolic process IBA 21873635
genes like me logo Genes that share ontologies with ACADS: view

No data available for SIGNOR curated interactions for ACADS Gene

Drugs & Compounds for ACADS Gene

Products:

  1. Drug

(17) Drugs for ACADS Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
NADH Approved Nutra Target 0
Gimeracil Approved Pharma Dihydropyrimidine dehydrogenase inhibitor 0
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 0
Stiripentol Approved Pharma An LDH inhibitor 11

(47) Additional Compounds for ACADS Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
 10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
 4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
 10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
 38795-33-4

(7) ApexBio Compounds for ACADS Gene

Compound Action Cas Number
AGI-6780 IDH2/R140Q mutation inhibitor 1432660-47-3
CPI-613 PDH/α-KGDH inhibitor 95809-78-2
Gimeracil Dihydropyrimidine dehydrogenase inhibitor 103766-25-2
Isosafrole A stiripentol analog, a potent LDH inhibitor. 120-58-1
Mycophenolate Mofetil IMPDH inhibitor 128794-94-5
Stiripentol An LDH inhibitor 49763-96-4
Trilostane 13647-35-3
genes like me logo Genes that share compounds with ACADS: view

Transcripts for ACADS Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for ACADS Gene

(2) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(136) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACADS

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACADS Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b
SP1: -
SP2: - -
SP3:

Relevant External Links for ACADS Gene

GeneLoc Exon Structure for
ACADS
ECgene alternative splicing isoforms for
ACADS

Expression for ACADS Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACADS Gene

mRNA expression in normal human tissues for ACADS Gene
mRNA expression by GTEx for ACADS GenemRNA expression by BioGPS for ACADS Gene

mRNA differential expression in normal tissues according to GTEx for ACADS Gene

This gene is overexpressed in Liver (x7.8) and Muscle - Skeletal (x4.9).

Protein differential expression in normal tissues from HIPED for ACADS Gene

This gene is overexpressed in Liver (10.7) and Nasopharynx (9.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACADS Gene



Protein tissue co-expression partners for ACADS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACADS Gene:

ACADS

SOURCE GeneReport for Unigene cluster for ACADS Gene:

Hs.507076

Evidence on tissue expression from TISSUES for ACADS Gene

  • Liver(4.5)
  • Eye(4.2)
  • Intestine(2.2)
  • Muscle(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACADS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • face
  • head
Thorax:
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ACADS: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ACADS Gene

Orthologs for ACADS Gene

This gene was present in the common ancestor of animals.

Orthologs for ACADS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ACADS 33 32
  • 99.03 (n)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ACADS 33
  • 90 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia ACADS 33 32
  • 88.67 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia ACADS 33 32
  • 87.97 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Acads 17 33 32
  • 86.65 (n)
rat
(Rattus norvegicus)
 Mammalia Acads 32
  • 86.08 (n)
oppossum
(Monodelphis domestica)
 Mammalia ACADS 33
  • 84 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ACADS 33 32
  • 75.59 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ACADS 33
  • 82 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia acads 32
  • 71.3 (n)
MGC76107 32
African clawed frog
(Xenopus laevis)
 Amphibia acads-prov 32
zebrafish
(Danio rerio)
 Actinopterygii acads 33 32
  • 70.44 (n)
 OneToOne
wufc44c01 32
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8763 32
fruit fly
(Drosophila melanogaster)
 Insecta Arc42 33 34 32
  • 69.98 (n)
 OneToMany
CG4860 33 34
  • 56 (a)
 OneToMany
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001951 32
  • 69.16 (n)
worm
(Caenorhabditis elegans)
 Secernentea C37A2.3 34
  • 33 (a)
C02D5.1 34
  • 32 (a)
acdh-5 33
  • 29 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.6600 33
  • 29 (a)
 ManyToMany
Cin.6004 32
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.6004 32
Species where no ortholog for ACADS was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACADS Gene

ENSEMBL:
Gene Tree for ACADS (if available)
TreeFam:
Gene Tree for ACADS (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACADS: view image

Paralogs for ACADS Gene

Paralogs for ACADS Gene

(10) SIMAP similar genes for ACADS Gene using alignment to 4 proteins:

  • ACADS_HUMAN
  • D4QEZ8_HUMAN
  • E5KSD5_HUMAN
  • E9PE82_HUMAN
genes like me logo Genes that share paralogs with ACADS: view

Variants for ACADS Gene

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Sequence variations from dbSNP and Humsavar for ACADS Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1035363801 uncertain-significance, Deficiency of butyryl-CoA dehydrogenase 120,737,089(+) T/A coding_sequence_variant, missense_variant
rs1057516231 likely-pathogenic, Deficiency of butyryl-CoA dehydrogenase 120,737,835(+) A/G intron_variant, splice_acceptor_variant
rs1057516385 likely-pathogenic, Deficiency of butyryl-CoA dehydrogenase 120,737,090(+) C/ coding_sequence_variant, frameshift
rs1057516421 likely-pathogenic, Deficiency of butyryl-CoA dehydrogenase 120,739,373(+) TG/ coding_sequence_variant, frameshift
rs1057516436 likely-pathogenic, Deficiency of butyryl-CoA dehydrogenase 120,738,327(+) GGGG/GGGGG coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for ACADS Gene

Variant ID Type Subtype PubMed ID
esv1004916 CNV deletion 20482838
esv1488435 CNV deletion 17803354
esv2746476 CNV deletion 23290073
esv2746477 CNV deletion 23290073
esv3168645 CNV deletion 24192839
esv3630931 CNV loss 21293372
nsv521928 CNV gain 19592680

Variation tolerance for ACADS Gene

Residual Variation Intolerance Score: 39.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.63; 82.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACADS Gene

Human Gene Mutation Database (HGMD)
ACADS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACADS

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACADS Gene

Disorders for ACADS Gene

MalaCards: The human disease database

(19) MalaCards diseases for ACADS Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ACADS in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACADS_HUMAN
  • Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]: An inborn error of mitochondrial fatty acid beta-oxidation resulting in acute acidosis and muscle weakness in infants, and a form of lipid-storage myopathy in adults. {ECO:0000269 PubMed:11134486, ECO:0000269 PubMed:1692038, ECO:0000269 PubMed:9499414}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ACADS Gene

myopathy,lipid storage

Additional Disease Information for ACADS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACADS: view

Publications for ACADS Gene

  1. The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots. (PMID: 15902559) van Maldegem BT … Wijburg FA (Journal of inherited metabolic disease 2005) 3 23 43 56
  2. The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. (PMID: 12706374) Nagan N … Matern D (Molecular genetics and metabolism 2003) 3 23 43 56
  3. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. (PMID: 11134486) Corydon MJ … Gregersen N (Pediatric research 2001) 3 4 23 56
  4. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria. (PMID: 9499414) Gregersen N … Kølvraa S (Human molecular genetics 1998) 3 4 23 56
  5. Structural organization of the human short-chain acyl-CoA dehydrogenase gene. (PMID: 9383286) Corydon MJ … Gregersen N (Mammalian genome : official journal of the International Mammalian Genome Society 1997) 3 4 23 56

ExternalLinks

View latest publications for ACADS gene in Mastermind

Products for ACADS Gene

Sources for ACADS Gene