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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACADS Gene

protein-coding GIFtS: 64
GCID: GC12P121163

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

(Previous names: acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain )

Explore 30 diseases affiliated with
ACADS via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Acyl-CoA Dehydrogenase, C-2 To C-3 Short Chain¹ ²		Short-Chain Acyl-CoA Dehydrogenase²
SCAD¹ ² ³ ⁵		Short-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial²
ACAD3¹ ²		Unsaturated Acyl-CoA Reductase²
Acyl-Coenzyme A Dehydrogenase, C-2 To C-3 Short Chain¹ ²		EC 1.3.8.1³
Butyryl-CoA Dehydrogenase² ³		EC 1.3.99⁸
Mitochondrial Short-Chain Specific Acyl-CoA Dehydrogenase²		EC 1.3.99.2⁸

External Ids:	HGNC: 90¹	Entrez Gene: 35²	Ensembl: ENSG00000122971⁷	OMIM: 606885⁵	UniProtKB: P16219³

Export aliases for ACADS gene to outside databases

Previous GC identifers: GC12M120059 GC12P120761 GC12P120946 GC12P119575 GC12P119547 GC12P119626 GC12P119648 GC12P118172

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACADS:

This gene encodes a 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 Deficiency. (provided by RefSeq, Jul 2008)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_009775.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACADS gene promoter:
MAZR AML1a AP-2gamma Gfi-1 MZF-1 PPAR-gamma1 AP-2beta PPAR-gamma2 AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACADS promoter sequence

Search SABiosciences Chromatin IP Primers for ACADS

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACADS

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.31 Ensembl cytogenetic band: 12q24.31 HGNC cytogenetic band: 12q24.31

ACADS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACADS gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P121163: view genomic region (about GC identifiers)

Start:	121,163,538 bp from pter	End:	121,177,811 bp from pter
Size:	14,274 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACADS_HUMAN, P16219 (See protein sequence)

Recommended Name: Short-chain specific acyl-CoA dehydrogenase, mitochondrial precursor

Size: 412 amino acids; 44297 Da

Cofactor: FAD

Subunit: Homotetramer

Subcellular location: Mitochondrion matrix

Miscellaneous: A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in

mammalian tissues

1 PDB 3D structure from and Proteopedia for ACADS:

2VIG (3D)

Secondary accessions: P78331

Explore the universe of human proteins at neXtProt for ACADS: NX_P16219

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P16219

4/11 DME Specific Peptides for ACADS (P16219) (see all 11)

EIQRLVI

IAMEEISR

QSVELPET

GAGLDYLAY

ACADS Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000008.1

ENSEMBL proteins:

ENSP00000242592 ENSP00000401045

Reactome Protein details: P16219
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for ACADS
	Uscn Proteins for ACADS

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	16729965
GO:0005759	mitochondrial matrix	TAS	--
GO:0031966	mitochondrial membrane	IEA	--

ACADS for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ACADS

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACADS for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR006090 Acyl-CoA_Oxase/DH_1

IPR009100 AcylCoA_DH/oxidase

IPR013786 AcylCoA_DH/ox_N

IPR006091 Acyl-CoA_Oxase/DH_cen-dom

IPR006089 Acyl-CoA_DH_CS

Graphical View of Domain Structure for InterPro Entry P16219

ProtoNet protein and cluster: P16219

1 Blocks protein family: IPB006089 Acyl-CoA dehydrogenase

UniProtKB/Swiss-Prot: ACADS_HUMAN, P16219

Similarity: Belongs to the acyl-CoA dehydrogenase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ACADS_HUMAN, P16219

Catalytic activity: Butanoyl-CoA + electron-transfer flavoprotein = 2-butenoyl-CoA + reduced electron-transfer

flavoprotein

Genatlas biochemistry entry for ACADS:

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): EC 1.3.99² EC 1.3.8.1¹ EC 1.3.99.2²

miRNA Products:		OriGene 3'-UTR Clone: ACADS Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACADS
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate ACADS:
		hsa-miR-4303 hsa-miR-378* hsa-miR-3921
		SwitchGear 3'UTR luciferase reporter plasmid: ACADS 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACADS (see all 7) OriGene shRNA RFP: ACADS OriGene siRNA: ACADS
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ACADS

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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACADS (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACADS OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ACADS (NM_000017)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ACADS
		Search LifeMap BioReagents cell lines for ACADS

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACADS

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000062	fatty-acyl-CoA binding	IEA	--
GO:0003995	acyl-CoA dehydrogenase activity	TAS	--
GO:0004085	butyryl-CoA dehydrogenase activity	IEA	--
GO:0050660	flavin adenine dinucleotide binding	IEA	--

ACADS for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for ACADS:

Decreased POU5F1-GFP protein e

Decreased nuclei size in G2M

Animal Models:
8 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Acads):

behavior/neurological	cellular	homeostasis/metabolism	integument	liver/biliary system
mortality/aging	muscle	renal/urinary system

ACADS for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA

	Beta oxidation of hexanoyl-CoA to butanoyl-CoA	0.67			Beta oxidation of butanoyl-CoA to acetyl-CoA	0.33
	mitochondrial fatty acid beta-oxidation of saturated fatty acids	0.62			Mitochondrial Fatty Acid Beta-Oxidation	0.33

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Fatty Acid Beta Oxidation

	Fatty Acid Beta Oxidation	1.00			Fatty acid metabolism	0.32
	Mitochondrial LC-Fatty Acid Beta-Oxidation	0.35

Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)

Fatty acid, triacylglycerol, and ketone body metabolism

0.52

Branched-chain amino acid catabolism

Valine, leucine and isoleucine degradation

0.39

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for ACADS

	Fatty Acid Beta Oxidation
	Mitochondrial LC-Fatty Acid Beta-Oxidation

5/7 Reactome Pathways for ACADS (see all 7)

	mitochondrial fatty acid beta-oxidation of saturated fatty acids
	Metabolism
	Beta oxidation of hexanoyl-CoA to butanoyl-CoA
	Beta oxidation of butanoyl-CoA to acetyl-CoA
	Fatty acid, triacylglycerol, and ketone body metabolism

4 Kegg Pathways (Kegg details for ACADS):

	Fatty acid metabolism
	Valine, leucine and isoleucine degradation
	Butanoate metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: ACADS_HUMAN, P16219

Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation

ACADS for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ACADS

STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

5/19 Interacting proteins for ACADS (P16219³ ENSP00000242592⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PRKAA1	Q13131³	I2D: score=1
SLC2A4	P14672³	I2D: score=1
ACAA1	ENSP00000333664⁴	STRING: ENSP00000333664
ACAA2	ENSP00000285093⁴	STRING: ENSP00000285093
ACAT1	ENSP00000265838⁴	STRING: ENSP00000265838

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006635	fatty acid beta-oxidation	TAS	--
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	IEA	--
GO:0042594	response to starvation	IEA	--
GO:0044255	cellular lipid metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

ACADS for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ACADS for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACADS

10/38 HMDB Compounds for ACADS (see all 38) About this table

Compound	Synonyms	CAS #	PubMed Ids
(2E)-Decenoyl-CoA	(E)-S-2-decenoate Coenzyme A (see all 15)	10018-95-8	--
(2E)-Dodecenoyl-CoA	2-trans-Dodecenoyl-Coenzyme A (see all 4)	1066-12-2	--
(2E)-Hexadecenoyl-CoA	trans-2-Hexadecenoyl-CoA (see all 4)	4460-95-1	--
(2E)-Octenoyl-CoA	(E)-S-2-octenoate Coenzyme A (see all 16)	10018-94-7	--
(2E)-Tetradecenoyl-CoA	(2E)-Tetradecenoyl-Coenzyme A (see all 8)	38795-33-4	--
2-Methylbutyryl-CoA	2-methylbutanoyl-CoA (see all 11)	6712-02-3	--
2-Methylhexanoyl-CoA	2-Methylhexanoyl-CoEnzyme A (see all 5)	--	--
3Z-dodecenoyl-CoA	S-[2-[3-[[(2R)-4-[[[(2R,3R,5R)-5-(6-aminopurin-9-yl)-4-hydroxy-3-phosphonooxyoxolan-2-yl]methoxy-hydroxyphosphoryl]oxy-hydroxyphosphoryl]oxy-2-hydroxy-3,3-dimethylbutanoyl]amino]propanoylamino]ethyl] (Z)-dodec-3-enethioate (see all 4)	2152-91-2	--
Acetyl-CoA	S-Acetyl coenzyme A (see all 13)	72-89-9	--
Acrylyl-CoA	Acryloyl coenzyme A (see all 14)	5776-58-9	--

3 DrugBank Compounds for ACADS About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Acetoacetyl-Coenzyme A	--	1420-36-6	target	--	17139284 17016423 10592235
Flavin-Adenine Dinucleotide	--	146-14-5	target	--	17139284 17016423 10592235
NADH	beta-DPNH (see all 18)	606-68-8	target	--	17139284 17016423

10/15 Novoseek chemical compound relationships for ACADS gene (see all 15) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
ethylmalonic acid	97.2	13	9499414 (2), 14595061 (2), 8725270 (1), 16101709 (1) (see all 5)
butyrylcarnitine	95.9	4	16101709 (1), 12706376 (1), 18054510 (1), 12736383 (1)
acyl-coa	93.3	104	9250376 (3), 7988059 (3), 8102510 (2), 14506246 (2) (see all 56)
isobutyryl-carnitine	90	2	16906473 (1), 12736383 (1)
fatty acid	63.1	16	19625492 (1), 14506246 (1), 16020546 (1), 18175080 (1) (see all 12)
s-adenosylmethionine	53.9	2	14595061 (1), 12736383 (1)
carnitine	53.1	1	12736383 (1)
17beta-hydroxysteroid	43.7	1	11719564 (1)
riboflavin	40.9	2	9250376 (1), 18836889 (1)
11beta-hydroxysteroid	36.4	1	1639208 (1)

Search CenterWatch for drugs/clinical trials and news about ACADS

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACADS gene:

NM_000017.2

Unigene Cluster for ACADS:

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

Hs.507076 [show with all ESTs]

Unigene Representative Sequence: NM_000017

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000242592(uc001tza.4) ENST00000539690 ENST00000411593(uc010szl.1)

miRNA Products:		OriGene 3'-UTR Clone: ACADS Browse OriGene MicroRNA Expression Plasmids
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		hsa-miR-4303 hsa-miR-378* hsa-miR-3921
		SwitchGear 3'UTR luciferase reporter plasmid: ACADS 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector: ACADS (NM_000017)
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACADS

Additional cDNA sequence:

AB527081.1 AK300645.1 BC025963.1 M26393.1

5 DOTS entries:

DT.40215381 DT.95202914 DT.100695162 DT.100763281 DT.92432437

24/136 AceView cDNA sequences (see all 136):

BI770149 BM790424 BE869341 BM921277 CR608104 CA430949 CR606773 BQ448199

CR604877 BM923843 CR615642 CR613358 BQ954159 BI754165 AI953427 BM468073

CR607224 AL557983 CR596637 CR613518 BU539840 BM700560 CR600438 BM906375

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for ACADS About this scheme

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

ECgene alternative splicing isoforms for ACADS

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACADS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTGTGTGACT

About this image
See ACADS Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACADS

SOURCE GeneReport for Unigene cluster: Hs.507076

SABiosciences Expression via Pathway-Focused PCR Arrays including ACADS:

Fatty Acid Metabolism in human mouse rat

Amino Acid Metabolism II in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACADS

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for ACADS gene from 5/23 species (see all 23) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ACADS¹	acyl-CoA dehydrogenase, C-2 to C-3 short chain	75.59(n) 82.24(a)		416969 NM_001006193.1 NP_001006193.1
lizard (Anolis carolinensis)	Reptilia	ACADS⁶	--	82(a)	1 ↔ 1	GL343338.1(191632-199362)
African clawed frog (Xenopus laevis)	Amphibia	acads-prov²	short chain acyl-coenzyme A dehydrogenase	73.55(n)		BC055986.1
zebrafish (Danio rerio)	Actinopterygii	wufc44c01²	Transcribed sequence with weak similarity to protein more	77.05(n)		57050009
fruit fly (Drosophila melanogaster)	Insecta	Arc42^{1 , 3}	transcription initiation from Pol II promoter more³ Arc42¹	69(a) (best of 2)³ 69.98(n)¹ 70.72(a)¹		92B4³ 42364¹ NM_142583.2¹ NP_650840.1¹

ENSEMBL Gene Tree for ACADS (if available)
TreeFam Gene Tree for ACADS (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ACADS gene

ACADL² ACAD8² ACADSB² ACAD11² GCDH² ACAD9² ACAD10² IVD²

ACADM² ACADVL²

10 SIMAP similar genes for ACADS using alignment to 4 protein entries: ACADS_HUMAN (see all proteins):

ACADSB ACAD8 IVD ACAD9 ACADM GCDH

ACADL ACADVL DKFZp686M24262 ACAD11

ACADS for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs61732144^1,2	C,F	pathogenic	118184184(+)	`TCAGCC/TGTGGC`	2	R C	mis¹		2		NS NA	4104
rs57443665^1,2	C,F,	pathogenic	118184983(+)	`ACTCAC/G/TGGGTT`	3	R G W	mis¹		2		NA EU	5257
rs28940874^1,2	C	pathogenic	118185029(+)	`GGAGGC/TTTCGG`	2	A V	mis¹ ese³		2		NA	4
rs28941773^1,2	C,F	pathogenic	118186258(+)	`CGCCTC/TGGAGG`	2	S L	mis¹ ese³		3		NA	4436
rs1800556^1,2	C,F,	pathogenic	121175678(+)	`CCGCCC/TGGGCC`	2	R W	mis¹		7		NA EU	5332
rs1799958^1,2	C,F,	pathogenic	121176083(+)	`TTCAGG/AGCATC`	2	/S /G	mis¹		13		EA MN NA NS CSA WA EU	8167
rs2948150^1,2	C,F,H,	--	118170942(-)	`ATCACC/TCTAGA`	1	--	us2k¹		14		NS EA NA WA	1876
rs182730693^1,2	C	--	118171062(+)	`TTTTTG/TGAGAT`	1	--	us2k¹		0	--	--	--	--
rs56178989^1,2	C,	--	118171076(+)	`GTTTCG/ACTCTT`	1	--	us2k¹		1		NA	2
rs11065226^1,2	C,F,	--	118171206(+)	`acgccC/Tggcta`	1	--	us2k¹		7		NA WA CSA	248

HapMap Linkage Disequilibrium report for ACADS (121163538 - 121177811 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ACADS: --
Human Gene Mutation Database (HGMD): ACADS

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ACADS for disorders           About GeneDecksing

OMIM gene information: 606885
OMIM disorders: 201470
UniProtKB/Swiss-Prot: ACADS_HUMAN, P16219

Defects in ACADS are the cause of acyl-CoA dehydrogenase short-chain deficiency (ACADSD) [MIM:201470]. It is

an autosomal recessive disorder resulting in acute acidosis and muscle weakness in infants, and a form of

lipid-storage myopathy in adults

20/30 diseases for ACADS (see all 30): About MalaCards

acyl-coa dehydrogenase short-chain acyl-coa dehydrogenase deficiency sudden infant death syndrome fatty acid oxidation disorders

ehlers-danlos syndrome carotid artery dissection prader-willi syndrome ethylmalonic encephalopathy

infantile hypotonia axonal neuropathy malignant hyperthermia metabolic disorders

hyperargininemia diverticulitis hypotonia ulcerative colitis

ophthalmoplegia myopathy autoimmune thyroiditis diabetes mellitus

7 diseases from the University of Copenhagen DISEASES database for ACADS:

Diverticulitis Isovaleric acidemia Systemic primary carnitine deficiency disease Carotid artery dissection

Hyperargininemia Ulcerative colitis 3-Methylcrotonyl-CoA carboxylase deficiency

10/13 Novoseek disease relationships for ACADS gene (see all 13) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
scad deficiency	99.2	91	11134486 (6), 14595061 (5), 14506246 (4), 15534767 (4) (see all 31)
encephalopathy, ethylmalonic	89.5	2	16906473 (1), 18950661 (1)
lipid storage myopathy	83.9	1	2260861 (1)
mcad deficiency	81.5	2	14707514 (1), 18836889 (1)
aciduria organic	72.1	3	1635815 (2)
enzyme deficiency	61	1	17072495 (1)
developmental delay	57.1	1	18950661 (1)
metabolic disorder	54.3	4	18714517 (1), 11134486 (1), 12706376 (1), 15560374 (1)
hypoglycemia	47.4	1	15560374 (1)
myopathy	47	2	20376488 (1), 9932958 (1)

Genatlas disease: ACADS

myopathy,lipid storage

Genetic Association Database (GAD): ACADS
Human Genome Epidemiology (HuGE) Navigator: ACADS (13 documents)

Export disorders for ACADS gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ACADS gene, integrated from 9 sources (see all 105):
(articles sorted by number of sources associating them with ACADS)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency. (PubMed id 2565344)^{1, 2, 3} Naito E.... Tanaka K. (1989)
Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency. (PubMed id 11134486)^{1, 2, 9} Corydon M.J.... Gregersen N. (2001)
Structural organization of the human short-chain acyl-CoA dehydrogenase gene. (PubMed id 9383286)^{1, 2, 9} Corydon M.J.... Gregersen N. (1997)
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. (PubMed id 9499414)^{1, 2, 9} Gregersen N.... Koelvraa S. (1998)
The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots. (PubMed id 15902559)^{1, 4, 9} van Maldegem B.T....Wijburg F.A. (2005)
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. (PubMed id 12706374)^{1, 4, 9} Nagan N....Matern D. (2003)
Identification of two variant short chain acyl-coenzyme A dehydrogenase alleles, each containing a different point mutation in a patient with short chain acyl-coenzyme A dehydrogenase deficiency. (PubMed id 1692038)^{1, 2, 9} Naito E.... Tanaka K. (1990)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Human liver protein map: a reference database established by microsequencing and gel comparison. (PubMed id 1286669)^{1, 2} Hochstrasser D.F.... Hughes G.J. (1992)
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. (PubMed id 18523805)^{1, 9} Pedersen C.B....Gregersen N. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 35	HGNC: 90	AceView: ACADS	Ensembl:ENSG00000122971	euGenes: HUgn35
ECgene: ACADS	Kegg: 35	H-InvDB: ACADS

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ACADS	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADS
Wikipedia	http://en.wikipedia.org/wiki/Butyryl_CoA_dehydrogenase

Intellectual Property for ACADS gene
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Patent Information for ACADS gene:
Search GeneIP for patents involving ACADS

GeneCards and IP:
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acyl-CoA dehydrogenase, C-2 to C-3 short chain

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

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