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ACADS Gene(Protein Coding)

Acyl-CoA Dehydrogenase, C-2 To C-3 Short Chain

GCID:
GC12P120762
GIFtS:
64
Genes Participants
UDN Logo

Aliases for ACADS Gene

Aliases for ACADS Gene

  • Acyl-CoA Dehydrogenase, C-2 To C-3 Short Chain 2 3 5
  • Acyl-Coenzyme A Dehydrogenase, C-2 To C-3 Short Chain 2 3
  • Butyryl-CoA Dehydrogenase 3 4
  • SCAD 3 4
  • Short-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial 3
  • Mitochondrial Short-Chain Specific Acyl-CoA Dehydrogenase 3
  • Unsaturated Acyl-CoA Reductase 3
  • EC 1.3.99.2 61
  • EC 1.3.8.1 4
  • EC 1.3.99 61
  • ACAD3 3

External Ids for ACADS Gene

Previous GeneCards Identifiers for ACADS Gene

  • GC12M120059
  • GC12P120761
  • GC12P120946
  • GC12P119575
  • GC12P119547
  • GC12P119626
  • GC12P119648
  • GC12P121163
  • GC12P118172

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, C-2 To C-3 Short Chain) is a Protein Coding gene. Diseases associated with ACADS include Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of and Ethylmalonic Encephalopathy. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Fatty acid metabolism. 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 for ACADS Gene

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

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACADS Gene

Genomics for ACADS Gene

Products:

  1. Regulatory Element

Regulatory Elements for ACADS Gene

Enhancers for ACADS Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G120833 1.2 Ensembl ENCODE dbSUPER 40.3 +109.0 108987 3.1 PKNOX1 ZNF146 ZSCAN4 WRNIP1 GATAD2B EBF1 ZKSCAN1 ARID3A PRDM6 GATA3 ACADS SPPL3 ENSG00000256569 C12orf43 MORN3 PIR38395 ENSG00000255946
GH12G120905 1.2 Ensembl ENCODE dbSUPER 40.3 +181.1 181128 2.3 GATAD2A SAP130 TEAD1 NFIA HLF CEBPB HMG20A ZNF644 RARA TEAD3 ACADS ENSG00000256569 HNF1A-AS1 C12orf43 SPPL3 ENSG00000272849 CLIC1P1
GH12G120958 1.6 Ensembl ENCODE dbSUPER 26.3 +235.3 235339 5.5 HDGF PKNOX1 ARNT CREB3L1 MLX AGO1 ARID4B SIN3A DMAP1 ZNF2 ACADS C12orf43 SPPL3 OASL ENSG00000256569 ENSG00000255946 UNC119B MLEC ENSG00000256364 P2RX4
GH12G120849 1 Ensembl ENCODE 40.1 +124.9 124860 3.1 HDGF CTCF WRNIP1 RELA ZNF121 POLR2A EED SCRT2 FOSL2 RELB ACADS SPPL3 ENSG00000256569 C12orf43 ARF1P2
GH12G120847 1.2 Ensembl ENCODE dbSUPER 32.7 +122.5 122457 1.6 HDAC1 MTA2 BHLHE40 MAX ZNF384 TBX21 NR2F2 ZNF664 ZNF318 JUND ACADS SPPL3 ENSG00000256569 C12orf43 ARF1P2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACADS on UCSC Golden Path with GeneCards custom track

Promoters for ACADS Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000058351 265 1201 HDGF ATF1 ARID4B SIN3A DMAP1 ZNF48 YY1 ZNF121 GLIS2 KLF13

Transcription factor binding sites by QIAGEN in the ACADS gene promoter:

Genomic Location for ACADS Gene

Chromosome:
12
Start:
120,725,735 bp from pter
End:
120,740,008 bp from pter
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:

  1. Antibody
  2. Protein
  3. Assay

  • 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:

Protein Domains for ACADS Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACADS Gene

GenScript: Design optimal peptide antigens:

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
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for ACADS Gene

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
UniProtKB/Swiss-Prot CatalyticActivity:
A short-chain acyl-CoA + electron-transfer flavoprotein = a short-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein.
UniProtKB/Swiss-Prot Function:
Introduces a double bond at position 2 in saturated acyl-CoAs of short chain length, i.e. less than 6 carbon atoms.

Enzyme Numbers (IUBMB) 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 TAS --
GO:0004085 butyryl-CoA dehydrogenase activity IEA --
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

Clone Products

Flow Cytometry 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 5
cytosol 3
cytoskeleton 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ACADS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 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:0008152 metabolic process IEA --
GO:0055114 oxidation-reduction process IEA --
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
Gimeracil Approved Pharma Dihydropyrimidine dehydrogenase inhibitor 0
Mycophenolate mofetil Approved, Investigational Pharma IMPDH inhibitor 952
Stiripentol Approved Pharma An LDH inhibitor 8
Trilostane Approved, Investigational, Vet_approved, Withdrawn Pharma 2

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

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
  • (2E)-Dodec-2-enoyl-CoA
  • (2E)-Dodec-2-enoyl-Coenzyme A
  • 2-trans-Dodecenoyl-CoA
  • 2-trans-Dodecenoyl-Coenzyme A
 1066-12-2
(2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-CoA
  • (2E)-Hexadecenoyl-Coenzyme A
  • trans-2-Hexadecenoyl-CoA
  • trans-2-Hexadecenoyl-Coenzyme A
 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-CoA
  • (2E)-Tetradecenoyl-Coenzyme A
  • Trans-tetra-dec-2-enoyl-CoA
  • Trans-tetra-dec-2-enoyl-CoA.
  • 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
  5. Flow Cytometry

mRNA/cDNA for ACADS Gene

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

Unigene Clusters for ACADS Gene

Acyl-CoA dehydrogenase, C-2 to C-3 short chain:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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

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 BioGPS for ACADS GenemRNA expression by GTEx 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, PaxDb, 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
Organs:
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

Primer Products

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 34 35
  • 99.03 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia ACADS 35
  • 90 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia ACADS 34 35
  • 88.67 (n)
dog
(Canis familiaris)
 Mammalia ACADS 34 35
  • 87.97 (n)
mouse
(Mus musculus)
 Mammalia Acads 34 16 35
  • 86.65 (n)
rat
(Rattus norvegicus)
 Mammalia Acads 34
  • 86.08 (n)
oppossum
(Monodelphis domestica)
 Mammalia ACADS 35
  • 84 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ACADS 34 35
  • 75.59 (n)
lizard
(Anolis carolinensis)
 Reptilia ACADS 35
  • 82 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia acads 34
  • 71.3 (n)
MGC76107 34
African clawed frog
(Xenopus laevis)
 Amphibia acads-prov 34
zebrafish
(Danio rerio)
 Actinopterygii acads 34 35
  • 70.44 (n)
wufc44c01 34
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8763 34
fruit fly
(Drosophila melanogaster)
 Insecta Arc42 36 34 35
  • 69.98 (n)
CG4860 36 35
  • 61 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP001951 34
  • 69.16 (n)
worm
(Caenorhabditis elegans)
 Secernentea C37A2.3 36
  • 33 (a)
C02D5.1 36
  • 32 (a)
acdh-5 35
  • 29 (a)
 ManyToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.6600 35
  • 29 (a)
 ManyToMany
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.6004 34
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)

Paralogs for ACADS Gene

Paralogs for ACADS Gene

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

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

Variants for ACADS Gene

Sequence variations from dbSNP and Humsavar for ACADS Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs121908003 Pathogenic, Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] 120,727,115(+) CATGC(C/T)GGGAC reference, missense
rs121908004 Pathogenic, Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] 120,737,049(+) GTGCT(G/T)GCCTC reference, missense
rs121908005 Pathogenic, Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] 120,737,043(+) TTGGC(A/G)GTGCT reference, missense
rs121908006 Pathogenic, Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] 120,738,859(+) GTGCC(C/T)GGCTG reference, missense
rs28940872 Pathogenic, Acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470] 120,739,356(+) ACTAC(C/T)GCGAC reference, missense

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)

Relevant External Links for ACADS Gene

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

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

Disorders for ACADS Gene

MalaCards: The human disease database

(13) MalaCards diseases for ACADS Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
acyl-coa dehydrogenase, short-chain, deficiency of
  • short chain acyl-coa dehydrogenase deficiency
ethylmalonic encephalopathy
  • encephalopathy, ethylmalonic
lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency
  • lipid storage myopathy due to flad1 deficiency
infantile hypotonia
isovaleric acidemia
  • isovaleric acid coa dehydrogenase deficiency
- 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

Relevant External Links for ACADS

Genetic Association Database (GAD)
ACADS
Human Genome Epidemiology (HuGE) Navigator
ACADS
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACADS
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 B.T. … Wijburg F.A. (J. Inherit. Metab. Dis. 2005) 3 22 46 64
  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. (Mol. Genet. Metab. 2003) 3 22 46 64
  3. Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. (PMID: 11134486) Corydon M.J. … Gregersen N. (Pediatr. Res. 2001) 3 4 22 64
  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. … Koelvraa S. (Hum. Mol. Genet. 1998) 3 4 22 64
  5. Structural organization of the human short-chain acyl-CoA dehydrogenase gene. (PMID: 9383286) Corydon M.J. … Gregersen N. (Mamm. Genome 1997) 3 4 22 64

Products for ACADS Gene

Sources for ACADS Gene

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