Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACADSB Gene

protein-coding GIFtS: 62
GCID: GC10P124758

acyl-CoA dehydrogenase, short/branched chain

(Previous names: acyl-Coenzyme A dehydrogenase, short/branched chain )

Explore 10 diseases affiliated with
ACADSB 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, Short/Branched Chain¹ ²		2-Methylbutyryl-Coenzyme A Dehydrogenase² ³
SBCAD¹ ² ³ ⁵		Short/Branched Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial²
ACAD7¹ ²		2-Methylbutyryl-CoA Dehydrogenase³
Acyl-Coenzyme A Dehydrogenase, Short/Branched Chain¹ ²		EC 1.3.8.5³
2-MEBCAD² ³		EC 1.3.99⁸
2-Methyl Branched Chain Acyl-CoA Dehydrogenase² ³

External Ids:	HGNC: 91¹	Entrez Gene: 36²	Ensembl: ENSG00000196177⁷	OMIM: 600301⁵	UniProtKB: P45954³

Export aliases for ACADSB gene to outside databases

Previous GC identifers: GC10P123785 GC10P124018 GC10P124775 GC10P124308 GC10P118386

(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 ACADSB:

Short/branched chain acyl-CoA dehydrogenase(ACADSB) is a member of the acyl-CoA dehydrogenase family of enzymes that

catalyze the dehydrogenation of acyl-CoA derivatives in the metabolism of fatty acids or branch chained amino acids.

Substrate specificity is the primary characteristic used to define members of this gene family. The ACADSB gene

product has the greatest activity towards the short branched chain acyl-CoA derivative, (S)-2-methylbutyryl-CoA, but

also reacts significantly with other 2-methyl branched chain substrates and with short straight chain acyl-CoAs. The

cDNA encodes for a mitochondrial precursor protein which is cleaved upon mitochondrial import and predicted to yield a

mature peptide of approximately 43.7-KDa. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954

Function: Has greatest activity toward short branched chain acyl-CoA derivative such as (s)-2-methylbutyryl-CoA,

isobutyryl-CoA, and 2-methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA and

hexanoyl-CoA. Can use valproyl-CoA as substrate and may play a role in controlling the metabolic flux of valproic acid

in the development of toxicity of this agent

(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_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACADSB gene promoter:
NF-YA GATA-1 NF-YB CBF-A CBF-B HFH-1 SEF-1 (1) CP1A NF-Y CBF(2)
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACADSB promoter sequence

Search SABiosciences Chromatin IP Primers for ACADSB

Epigenetics:

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

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

Entrez Gene cytogenetic band: 10q26.13 Ensembl cytogenetic band: 10q26.13 HGNC cytogenetic band: 10q25-q26

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

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P124758: view genomic region (about GC identifiers)

Start:	124,768,429 bp from pter	End:	124,817,827 bp from pter
Size:	49,399 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: ACDSB_HUMAN, P45954 (See protein sequence)

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

Size: 432 amino acids; 47485 Da

Cofactor: FAD

Subunit: Homotetramer

Subcellular location: Mitochondrion matrix

1 PDB 3D structure from and Proteopedia for ACADSB:

2JIF (3D)

Secondary accessions: Q5SQN6 Q96CX7

Explore the universe of human proteins at neXtProt for ACADSB: NX_P45954

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P45954

4/9 DME Specific Peptides for ACADSB (P45954) (see all 9)

KEASMAK

IEELAKVD

RLLTYNAAR

FDFQGLQHQVA

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

REFSEQ proteins: NP_001600.1

ENSEMBL proteins:

ENSP00000357862 ENSP00000357873 ENSP00000407744

Reactome Protein details: P45954
Human Recombinant Protein Products for ACADSB:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: ACADSB OriGene Custom Protein Services for ACADSB
	GenScript Custom Purified and Recombinant Proteins Services for ACADSB
	Novus Biologicals ACADSB Proteins Novus Biologicals ACADSB Lysate
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for ACADSB
	Uscn Proteins for ACADSB

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	TAS	7698750
GO:0005759	mitochondrial matrix	TAS	--

ACADSB for ontologies About GeneDecksing

ACADSB Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies OriGene Custom Antibody Services for ACADSB
	GenScript Custom Superior Antibodies Services for ACADSB
	Novus Biologicals ACADSB Antibodies
	Abcam antibodies for ACADSB
	Uscn Antibodies for ACADSB
	Search ThermoFisher Antibodies for ACADSB

Assay Products for ACADSB:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ACADSB
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ACADSB

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

ACADSB 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 P45954

ProtoNet protein and cluster: P45954

1 Blocks protein family: IPB006089 Acyl-CoA dehydrogenase

UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954

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, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ACDSB_HUMAN, P45954

Function: Has greatest activity toward short branched chain acyl-CoA derivative such as (s)-2-methylbutyryl-CoA,

isobutyryl-CoA, and 2-methylhexanoyl-CoA as well as toward short straight chain acyl-CoAs such as butyryl-CoA and

hexanoyl-CoA. Can use valproyl-CoA as substrate and may play a role in controlling the metabolic flux of valproic acid

in the development of toxicity of this agent

Catalytic activity: Acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptor

Catalytic activity: 2-methylbutanoyl-CoA + electron-transfer flavoprotein = (E)-2-methylbut-2-enoyl-CoA + reduced

electron-transfer flavoprotein + H(+)

Genatlas biochemistry entry for ACADSB:

acyl-CoA dehydrogenase,short branched chain,mitochondrial,fatty acid beta-oxidation

Enzyme Numbers (IUBMB): EC 1.3.99² EC 1.3.8.5¹

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:0003995	acyl-CoA dehydrogenase activity	EXP	--
GO:0009055	electron carrier activity	--	--
GO:0016937	short-branched-chain-acyl-CoA dehydrogenase activity	--	--
GO:0050660	flavin adenine dinucleotide binding	IEA	--

ACADSB for ontologies About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ACADSB

miRNA Products:		OriGene 3'-UTR Clone: ACADSB Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACADSB
		8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate ACADSB (see all 41):
		hsa-miR-142-5p hsa-miR-136 hsa-miR-361-5p hsa-miR-1321 hsa-miR-3655 hsa-miR-488 hsa-miR-500a hsa-miR-4275

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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 ACADSB (see all 7) OriGene shRNA RFP: ACADSB OriGene siRNA: ACADSB
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACADSB
		Sirion Biotech Custom design and validation of potent shRNA sequences against ACADSB

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for ACADSB
			Sirion Biotech Customized adenovirus for overexpression of ACADSB Sirion Biotech Customized adenovirus for potent knockdown of ACADSB

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACADSB (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACADSB OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ACADSB (NM_001609)
		Sino Biological Human cDNA Clone for ACADSB
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACADSB
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACADSB

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for ACADSB
		Search LifeMap BioReagents cell lines for ACADSB
		Sirion Biotech Customized stable knockdown cell line services for ACADSB Sirion Biotech Customized inducible knockdown cell line services for ACADSB Sirion Biotech Customized stable overexpressing cell line services for ACADSB Sirion Biotech Customized inducible overexpressing cell line services for ACADSB

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACADSB

(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 About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Branched-chain amino acid catabolism

	Branched-chain amino acid catabolism	1.00			isoleucine degradation I	0.41
	valine degradation I	0.48			Valine, leucine and isoleucine degradation	0.39

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Metabolism of amino acids and derivatives

Metabolism of amino acids and derivatives

1.00

Valproic Acid Pathway, Pharmacokinetics

Valproic Acid Pathway, Pharmacokinetics

1.00

Fatty Acid Beta Oxidation

Fatty acid metabolism

0.32

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for ACADSB

	isoleucine degradation I
	valine degradation I

3 Reactome Pathways for ACADSB

	Metabolism
	Metabolism of amino acids and derivatives
	Branched-chain amino acid catabolism

1 PharmGKB Pathway for ACADSB

Valproic Acid Pathway, Pharmacokinetics

3 Kegg Pathways (Kegg details for ACADSB):

	Fatty acid metabolism
	Valine, leucine and isoleucine degradation
	Metabolic pathways

UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954

Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation

ACADSB for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ACADSB

STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

5/21 Interacting proteins for ACADSB (P45954³ ENSP00000357873⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
USP19	O94966³, ENSP00000381863⁴	I2D: score=2 STRING: ENSP00000381863
ATG2A	Q2TAZ0³	I2D: score=1
BECN1	Q14457³	I2D: score=1
CLN3	Q13286³	I2D: score=1
PRKAA2	P54646³	I2D: score=1

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006631	fatty acid metabolic process	IEA	--
GO:0006637	acyl-CoA metabolic process	--	--
GO:0009083	branched-chain amino acid catabolic process	TAS	--
GO:0034641	cellular nitrogen compound metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

ACADSB 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

ACADSB for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACADSB

10/37 HMDB Compounds for ACADSB (see all 37) 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	--

2 DrugBank Compounds for ACADSB About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Isoleucine	(2S,3S)-2-Amino-3-methylpentanoic acid (see all 11)	73-32-5	target	--	16317551 16950638 15615815
Valproic Acid	2-propylvaleric acid (see all 5)	99-66-1	target	inhibitor	16344985 2112956

4 Novoseek chemical compound relationships for ACADSB gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
2-methylbutyryl-coa	98.8	17	15574432 (5), 17393751 (2), 12837870 (2), 17883863 (2) (see all 7)
2-methyl-3-hydroxybutyryl-coa	93	2	16602099 (1), 16950638 (1)
acyl-coa	85.5	21	15574432 (2), 7759115 (2), 16602099 (1), 9487154 (1) (see all 10)
isoleucine	72.8	8	17945527 (2), 11013134 (1), 17393751 (1), 12837870 (1)

Search CenterWatch for drugs/clinical trials and news about ACADSB / ACDSB

(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, Sirion Biotech, 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 ACADSB gene:

NM_001609.3

Unigene Cluster for ACADSB:

Acyl-CoA dehydrogenase, short/branched chain

Hs.81934 [show with all ESTs]

Unigene Representative Sequence: NM_001609

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

ENST00000368869 ENST00000358776(uc001lhb.3 uc010qub.2) ENST00000411816

ENST00000496730 ENST00000541070

miRNA Products:		OriGene 3'-UTR Clone: ACADSB Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACADSB
		8/41 QIAGEN miScript miRNA Assays for microRNAs that regulate ACADSB (see all 41):
		hsa-miR-142-5p hsa-miR-136 hsa-miR-361-5p hsa-miR-1321 hsa-miR-3655 hsa-miR-488 hsa-miR-500a hsa-miR-4275

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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 ACADSB (see all 7) OriGene shRNA RFP: ACADSB OriGene siRNA: ACADSB
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACADSB
		Sirion Biotech Custom design and validation of potent shRNA sequences against ACADSB

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACADSB (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACADSB OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: ACADSB (NM_001609)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACADSB
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACADSB

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACADSB Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ACADSB
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACADSB
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACADSB

Additional cDNA sequence:

AK298638.1 AK314241.1 AL831821.2 BC013756.1 BC020931.1 BC032395.1 BC045723.1 U12778.1

10 DOTS entries:

DT.416941 DT.100024007 DT.100779963 DT.121295563 DT.121295582 DT.95263418 DT.100689618 DT.121295569

DT.121295691 DT.92425400

24/209 AceView cDNA sequences (see all 209):

AI911527 BU190209 AA917930 AV656592 AA424737 AI915897 AA236877 N53122

CR612602 AA953543 AI680749 AI492506 AV645726 NM_001609 AW408417 AV682059

AI111193 BM836131 BC013756 AA505970 AI672498 AV662308 AA904754 BG696761

GeneLoc Exon Structure

(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

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

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

SOURCE GeneReport for Unigene cluster: Hs.81934

UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954

Tissue specificity: Ubiquitous

SABiosciences Expression via Pathway-Focused PCR Arrays including ACADSB:

Fatty Acid Metabolism in human mouse rat

Amino Acid Metabolism II in human mouse rat

Cellular Stress Responses in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACADSB Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ACADSB
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACADSB
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACADSB

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACADSB

(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 ACADSB gene from 6/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ACADSB¹	acyl-CoA dehydrogenase, short/branched chain	72.38(n) 70.83(a)		423947 NM_001031240.1 NP_001026411.1
lizard (Anolis carolinensis)	Reptilia	ACADSB⁶	--	66(a)	1 ↔ 1	3(60004414-60017584)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.1713²	Transcribed sequence with moderate similarity to protein more	74.56(n)		BX707129.1
zebrafish (Danio rerio)	Actinopterygii	acadsb⁶	acyl-CoA dehydrogenase, short/branched chain	67(a)	1 ↔ 1	12(50644670-50652623)
fruit fly (Drosophila melanogaster)	Insecta	CG3902^{1 , 3}	short branched-chain acyl-CoA dehydrogenase³ CG3902¹	62(a)³ 60.26(n)¹ 62.11(a)¹		75E4³ 40059¹ NM_140812.2¹ NP_649069.2¹
worm (Caenorhabditis elegans)	Secernentea	K06A5.6³ acdh-3¹	acyl-coA dehydgrogenase³ Protein ACDH-3¹	62(a) (best of 7)³ 62.64(n)¹ 61.94(a)¹		I(6472332-6473462)³ 172351¹ NM_059458.3¹ NP_491859.1¹

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

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

Paralogs for ACADSB gene

ACADL² ACAD8² ACAD11² GCDH² ACADS² ACAD9² ACAD10² ACADM²

IVD² ACADVL²

9 SIMAP similar genes for ACADSB using alignment to 3 protein entries: ACDSB_HUMAN (see all proteins):

IVD ACAD9 ACADS ACADM ACAD8 ACADVL

DKFZp686M24262 ACADL GCDH

ACADSB 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 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs188094280^1,2	C	pathogenic	118833008(+)	`GTATCA/GAGTGG`	2	K E	mis¹		0	--	--	--	--
rs58639322^1,2	C,F	pathogenic	118845499(+)	`TAACAC/TACTGA`	2	T I	mis¹		2		NA EU	5865
rs41299151^1,2	C	--	118384523(+)	`AGCTAG/CTAACT`	1	--	us2k¹		2		NA	122
rs113903726^1,2		--	118384669(+)	`ACTGGC/TGGATT`	1	--	us2k¹		1		CSA	2
rs72839755^1,2	C,F	--	118386171(+)	`CAGCAG/AGGGGC`	1	--	us2k¹		1		NA	120
rs111352194^1,2	C	--	118386620(+)	`TTTGCT/AGGCCG`	1	--	int¹		1		NA	2
rs7072913^1,2	C,F,H	--	118386637(+)	`CCTGAG/AAGCCA`	1	--	int¹		5		NS EA WA	536
rs113086331^1,2	F	--	118387539(+)	`GAAAAG/AGAATA`	1	--	int¹		2		CSA	4
rs76546894^1,2	F	--	118387588(+)	`TATTCG/CAACTC`	1	--	int¹		1		WA	118
rs112398303^1,2	C	--	118389371(+)	`TCACCC/TTCCAA`	1	--	int¹		3		NA WA	240

HapMap Linkage Disequilibrium report for ACADSB (124768429 - 124817827 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ACADSB
1 CNV: 4714
Human Gene Mutation Database (HGMD): ACADSB

Locus Specific Mutation Databases (LSDB): ACADSB

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACADSB

DNA2.0 Custom Variant and Variant Library Synthesis for ACADSB

(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

ACADSB for disorders           About GeneDecksing

OMIM gene information: 600301
OMIM disorders: 610006
UniProtKB/Swiss-Prot: ACDSB_HUMAN, P45954

Defects in ACADSB are the cause of short/branched-chain acyl-CoA dehydrogenase deficiency (SBCADD)

[MIM:610006]; also known as 2-methylbutyryl-CoA dehydrogenase deficiency or 2-methylbutyryl glycinuria. SBCADD is an

autosomal recessive disorder and consists of a defect in catabolism of L-isoleucine which is characterized by an

increase of 2-methylbutyrylglycine and 2-methylbutyrylcarnitine in blood and urine. Affected individuals have seizures

and psychomotor delay as the main clinical features

10 diseases for ACADSB: About MalaCards

acyl-coa dehydrogenase 2-methylbutyryl-coa dehydrogenase deficiency isovaleric acidemia beta-ketothiolase deficiency

propionic acidemia ketothiolase deficiency alzheimer's disease hypertension

tuberculosis mycobacterium tuberculosis

1 Novoseek disease relationship for ACADSB gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
isovaleric acidemia	87	2	17393751 (1), 11427446 (1)

Human Genome Epidemiology (HuGE) Navigator: ACADSB (5 documents)

Export disorders for ACADSB 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 ACADSB gene, integrated from 9 sources (see all 42):
(articles sorted by number of sources associating them with ACADSB)

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

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. (PubMed id 16317551)^{1, 2, 7} Madsen P.P.... Andresen B.S. (2006)
Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family. (PubMed id 7698750)^{1, 2, 3} Rozen R.... Fournier B. (1994)
Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. (PubMed id 7759115)^{1, 3, 9} Arden K.C....Rozen R. (1995)
Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. (PubMed id 11013134)^{1, 2, 9} Andresen B.S.... Skovby F. (2000)
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)
2-methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. (PubMed id 10832746)^{1, 2} Gibson K.M.... Vockley J. (2000)
Inborn errors of isoleucine degradation: a review. (PubMed id 16950638)^{7, 9} Korman S.H. (2006)
A novel approach to the characterization of substrate specificity in short/branched chain Acyl-CoA dehydrogenase. (PubMed id 12855692)^{1, 9} He M....Vockley J. (2003)
2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. (PubMed id 15615815)^{7, 9} Korman S.H....Pitt J.J. (2005)
The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)¹ Aichem A....Groettrup M. (2012)

(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: 36	HGNC: 91	AceView: ACADSB	Ensembl:ENSG00000196177	euGenes: HUgn36
ECgene: ACADSB	Kegg: 36	H-InvDB: ACADSB

(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 ACADSB	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADSB

Intellectual Property for ACADSB gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for ACADSB gene:
Search GeneIP for patents involving ACADSB

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	Browse OriGene Antibodies		OriGene shRNA RFP for ACADSB
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACADSB		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ACADSB
	OriGene Protein Over-expression Lysate for ACADSB		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for ACADSB		OriGene 3'-UTR Clone for ACADSB
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACADSB		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACADSB
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for ACADSB		OriGene Custom Protein Services for ACADSB
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ACADSB
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACADSB
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACADSB
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACADSB
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACADSB
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACADSB

	GenScript Custom Purified and Recombinant Proteins Services for ACADSB		GenScript cDNA clones with any tag delivered in your preferred vector for ACADSB
	GenScript Custom Assay Services for ACADSB		GenScript Custom Superior Antibodies Services for ACADSB
	GenScript Custom overexpressing Cell Line Services for ACADSB		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in ACADSB promoter
	Search Chromatin IP Primers for ACADSB
	RT² qPCR Primer Assay in human, mouse, rat ACADSB
	Search GNC Networks for ACADSB
	SABiosciences PCR Arrays including human, mouse, rat ACADSB

Search Tocris compounds for ACADSB

	Browse Sino Biological Proteins and Antibodies
	cDNA Clones for ACADSB
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	ACADSB antibodies
	ACADSB proteins
	ACADSB lysates

	Antibodies for ACADSB
	See all of Abcam's Antibodies, Kits and Proteins for ACADSB
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Recombinant Protein for ACADSB

ACADSB Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for ACADSB

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACADSB

	Browse SwitchGear 3'UTR luciferase reporter plasmids for ACADSB
	SwitchGear Promoter luciferase reporter plasmids for ACADSB

Search ThermoFisher Antibodies for ACADSB

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACADSB

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ACADSB

Sirion Biotech Customized:

	stable knockdown cell line services for ACADSB
	inducible knockdown cell line services for ACADSB
	design and validation of potent shRNA sequences against ACADSB
	adenovirus for potent knockdown of ACADSB
	adenovirus for overexpression of ACADSB
	stable overexpressing cell line services for ACADSB
	inducible overexpressing cell line services for ACADSB

GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 13 May 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes ACADSB gene at Home site.

hostname: 356980-web2.xennexinc.com index build: 106 solr: 1.4

Advanced Search

Export list of displayed genes

ACADSB Gene

acyl-CoA dehydrogenase, short/branched chain

Aliases
for ACADSB gene

Summaries
for ACADSB gene

Genomic Views
for ACADSB gene

Proteins
for ACADSB gene

Protein Domains /
Families
for ACADSB gene

Function
for ACADSB gene

Pathways & Interactions
for ACADSB gene

Drugs & Compounds
for ACADSB gene

Transcripts
for ACADSB gene

Expression
for ACADSB gene

Orthologs
for ACADSB gene

Paralogs
for ACADSB gene

Genomic Variants
for ACADSB gene

Disorders / Diseases
for ACADSB gene

Publications
for ACADSB gene

External Searches for ACADSB gene

Genome Databases showing ACADSB gene

Other Databases showing ACADSB gene

Specialized Databases showing ACADSB gene

Intellectual Property
for ACADSB gene

Products
for ACADSB gene

View Random Gene

Advanced Search

Export list of displayed genes

ACADSB Gene

acyl-CoA dehydrogenase, short/branched chain

Aliasesfor ACADSB gene

Summariesfor ACADSB gene

Genomic Viewsfor ACADSB gene

Proteinsfor ACADSB gene

Protein Domains /Familiesfor ACADSB gene

Functionfor ACADSB gene

Pathways & Interactionsfor ACADSB gene

Drugs & Compoundsfor ACADSB gene

Transcriptsfor ACADSB gene

Expression for ACADSB gene

Orthologsfor ACADSB gene

Paralogsfor ACADSB gene

Genomic Variantsfor ACADSB gene

Disorders / Diseasesfor ACADSB gene

Publicationsfor ACADSB gene

External Searches for ACADSB gene

Genome Databases showing ACADSB gene

Other Databases showing ACADSB gene

Specialized Databases showing ACADSB gene

Intellectual Propertyfor ACADSB gene

Productsfor ACADSB gene

View Random Gene

Aliases
for ACADSB gene

Summaries
for ACADSB gene

Genomic Views
for ACADSB gene

Proteins
for ACADSB gene

Protein Domains /
Families
for ACADSB gene

Function
for ACADSB gene

Pathways & Interactions
for ACADSB gene

Drugs & Compounds
for ACADSB gene

Transcripts
for ACADSB gene

Expression
for ACADSB gene

Orthologs
for ACADSB gene

Paralogs
for ACADSB gene

Genomic Variants
for ACADSB gene

Disorders / Diseases
for ACADSB gene

Publications
for ACADSB gene

Intellectual Property
for ACADSB gene

Products
for ACADSB gene