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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACADM Gene

protein-coding GIFtS: 67
GCID: GC01P076190

acyl-CoA dehydrogenase, C-4 to C-12 straight chain

(Previous names: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain...)

Explore 35 diseases affiliated with
ACADM 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-4 To C-12 Straight Chain¹ ²		Medium-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial²
MCAD¹ ² ³ ⁵		EC 1.3.8.7³
ACAD1¹ ²		EC 1.3.99⁸
MCADH¹ ²		EC 1.3.99.3⁸
Acyl-Coenzyme A Dehydrogenase, C-4 To C-12 Straight Chain¹ ²

External Ids:	HGNC: 89¹	Entrez Gene: 34²	Ensembl: ENSG00000117054⁷	OMIM: 607008⁵	UniProtKB: P11310³

Export aliases for ACADM gene to outside databases

Previous GC identifers: GC01P076309 GC01P075125 GC01P075606 GC01P075612 GC01P075902 GC01P074319

(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 ACADM:

This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer

enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause

medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia,

and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different

isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310

Function: This enzyme is specific for acyl chain lengths of 4 to 16

(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_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACADM gene promoter:
Oct-B1 PPAR-gamma1 POU2F1 oct-B3 oct-B2 POU2F1a PPAR-gamma2 POU2F2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACADM promoter sequence

Search SABiosciences Chromatin IP Primers for ACADM

Epigenetics:

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

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

Entrez Gene cytogenetic band: 1p31 Ensembl cytogenetic band: 1p31.1 HGNC cytogenetic band: 1p31

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

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01P076190: view genomic region (about GC identifiers)

Start:	76,190,036 bp from pter	End:	76,253,260 bp from pter
Size:	63,225 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: ACADM_HUMAN, P11310 (See protein sequence)

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

Size: 421 amino acids; 46588 Da

Cofactor: FAD

Subunit: Homotetramer. Interacts with the heterodimeric electron transfer flavoprotein ETF

Subcellular location: Mitochondrion matrix

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

mammalian tissues

Miscellaneous: Utilizes the electron transfer flavoprotein (ETF) as electron acceptor that transfers the electrons to

the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase)

5 PDB 3D structures from and Proteopedia for ACADM:

1EGC (3D)

1EGD (3D)

1EGE (3D)

1T9G (3D)

2A1T (3D)

Secondary accessions: Q5T4U4 Q9NYF1

Alternative splicing: 2 isoforms: P11310-1 P11310-2

Explore the universe of human proteins at neXtProt for ACADM: NX_P11310

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P11310

4/20 DME Specific Peptides for ACADM (P11310) (see all 20)

KAEKKGD

QKKKYLG

WRSQHTK

KMWITNG

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

REFSEQ proteins (2 alternative transcripts):

NP_000007.1 NP_001120800.1

ENSEMBL proteins:

ENSP00000359878 ENSP00000434092 ENSP00000431953 ENSP00000432522 ENSP00000359871

ENSP00000431372 ENSP00000435584 ENSP00000434823 ENSP00000409612 ENSP00000434284

ENSP00000442324 ENSP00000446176

Reactome Protein details: P11310
Human Recombinant Protein Products:

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

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	--
GO:0005759	mitochondrial matrix	TAS	--
GO:0030424	axon	IDA	--
GO:0031966	mitochondrial membrane	--	--

ACADM for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ACADM

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

ACADM 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 P11310

ProtoNet protein and cluster: P11310

1 Blocks protein family: IPB006089 Acyl-CoA dehydrogenase

UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310

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: ACADM_HUMAN, P11310

Function: This enzyme is specific for acyl chain lengths of 4 to 16

Catalytic activity: A medium-chain acyl-CoA + electron-transfer flavoprotein = a medium-chain trans-2,3-dehydroacyl-CoA

+ reduced electron-transfer flavoprotein

Genatlas biochemistry entry for ACADM:

acyl-CoA dehydrogenase,medium chain (C6-C12),mitochondrial,fatty acid beta-oxidation

Enzyme Numbers (IUBMB): EC 1.3.99² EC 1.3.8.7¹ EC 1.3.99.3²

miRNA Products:		miRTarBase miRNAs that target ACADM: hsa-mir-98 (MIRT004953)

		OriGene 3'-UTR Clone (see all 2): ACADM Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACADM
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate ACADM:
		hsa-miR-3163 hsa-miR-3148
		SwitchGear 3'UTR luciferase reporter plasmid: ACADM 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 ACADM (see all 7) OriGene shRNA RFP: ACADM OriGene siRNA: ACADM
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACADM

Gene Editing
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DNA2.0 Custom Protein Engineering Service for ACADM

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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ACADM (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ACADM (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): ACADM (NM_000016)
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		Search LifeMap BioReagents cell lines for ACADM

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACADM

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000062	fatty-acyl-CoA binding	--	--
GO:0003995	acyl-CoA dehydrogenase activity	TAS	--
GO:0016627	oxidoreductase activity, acting on the CH-CH group of donors	--	--
GO:0016853	isomerase activity	--	--
GO:0042802	identical protein binding	IDA	19224950

ACADM for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for ACADM:

Decreased viability of wild-ty

Animal Models:
Mouse knock-out Acadm^tm1Uab for ACADM
5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Acadm):

cardiovascular system

homeostasis/metabolism

liver/biliary system

mortality/aging

muscle

ACADM 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 - 5/10 super-pathways (see all 10) 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 decanoyl-CoA to octanoyl-CoA-CoA	0.67	mitochondrial fatty acid beta-oxidation of unsaturated fatty acids	0.38
Beta oxidation of octanoyl-CoA to hexanoyl-CoA	0.67	Mitochondrial Fatty Acid Beta-Oxidation	0.33
mitochondrial fatty acid beta-oxidation of saturated fatty acids	0.62

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

	Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	1.00			Fatty acid, triacylglycerol, and ketone body metabolism	0.52
	PPARA Activates Gene Expression	0.74

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

Branched-chain amino acid catabolism

Valine, leucine and isoleucine degradation

0.39

Propanoate metabolism

0.07

Pathway sources
See GeneCards unified pathways
Show all pathways

4 BioSystems Pathways for ACADM

	SIDS Susceptibility Pathways
	Fatty Acid Beta Oxidation
	Mitochondrial LC-Fatty Acid Beta-Oxidation
	FOXA2 and FOXA3 transcription factor networks

5/11 Reactome Pathways for ACADM (see all 11)

	mitochondrial fatty acid beta-oxidation of saturated fatty acids
	Metabolism
	Expression of ACADM
	Fatty acid, triacylglycerol, and ketone body metabolism
	Mitochondrial Fatty Acid Beta-Oxidation

5/6 Kegg Pathways (Kegg details for ACADM) (see all 6):

	Fatty acid metabolism
	Valine, leucine and isoleucine degradation
	beta-Alanine metabolism
	Propanoate metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310

Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation

ACADM for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/73 Interacting proteins for ACADM (P11310³ ENSP00000409612⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 73)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CALM1	P62158³	I2D: score=1
CALM2	P62158³	I2D: score=1
CALM3	P62158³	I2D: score=1
USP20	Q9Y2K6³, ENSP00000313811⁴	I2D: score=2 STRING: ENSP00000313811
SUMO4	Q6EEV6³, ENSP00000318635⁴	I2D: score=1 STRING: ENSP00000318635

About this table

Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001889	liver development	IEA	--
GO:0005978	glycogen biosynthetic process	IEA	--
GO:0006082	organic acid metabolic process	--	--
GO:0006111	regulation of gluconeogenesis	IEA	--
GO:0006635	fatty acid beta-oxidation	TAS	--

ACADM 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

ACADM for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACADM

10/39 HMDB Compounds for ACADM (see all 39) 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)	--	--
3-Methylcrotonyl-CoA	3-Methylbut-2-enoyl-CoA (see all 14)	793193-48-3	--
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	--

3 DrugBank Compounds for ACADM About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
3-Thiaoctanoyl-Coenzyme A	--	--	target	--	17139284 17016423 10592235
Flavin-Adenine Dinucleotide	--	146-14-5	target	--	17139284 17016423 10592235
Octanoyl-Coenzyme A	--	--	target	--	17139284 17016423 10592235

10/43 Novoseek chemical compound relationships for ACADM gene (see all 43) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
acyl-coa	97.3	334	2345678 (3), 1363805 (3), 8102510 (2), 7905878 (2) (see all 99)
cis-4-decenoic acid	95.6	4	8154855 (1), 8056418 (1), 7586519 (1), 17987455 (1)
octanoylcarnitine	95.5	17	8496747 (3), 9365395 (3), 1635814 (2), 8650121 (1) (see all 11)
3-phenylpropionylglycine	94.6	8	1541011 (3), 2345678 (1), 8419594 (1), 8154855 (1) (see all 5)
suberylglycine	94.1	1	18203188 (1)
hexanoylglycine	90.8	2	18203188 (1), 17186412 (1)
methylenecyclopropyl acetyl-coa	86.5	7	2331485 (2)
hexanoylcarnitine	86.5	2	1635814 (2)
iacoa	85.1	1	8218225 (1)
decanoylcarnitine	83.2	2	8650121 (1)

Search CenterWatch for drugs/clinical trials and news about ACADM

(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 ACADM gene (2 alternative transcripts):

NM_000016.4 NM_001127328.1

Unigene Cluster for ACADM:

Acyl-CoA dehydrogenase, C-4 to C-12 straight chain

Hs.445040 [show with all ESTs]

Unigene Representative Sequence: NM_001127328

18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):

ENST00000370841(uc010orc.1 uc010ord.2 uc001dgw.4 uc009wbp.3 uc009wbr.3 uc010ore.2 uc010orf.2 uc010org.2)

ENST00000525881 ENST00000526129 ENST00000526196 ENST00000534146 ENST00000532509

ENST00000370834 ENST00000473018 ENST00000530953 ENST00000534334(uc009wbs.1)

ENST00000525808 ENST00000420607 ENST00000529059 ENST00000526930 ENST00000532207

ENST00000528016 ENST00000481374 ENST00000541113

miRNA Products:		OriGene 3'-UTR Clone (see all 2): ACADM Browse OriGene MicroRNA Expression Plasmids
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		2 QIAGEN miScript miRNA Assays for microRNAs that regulate ACADM:
		hsa-miR-3163 hsa-miR-3148
		SwitchGear 3'UTR luciferase reporter plasmid: ACADM 3' UTR sequence

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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACADM

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		GenScript: all cDNA clones in your preferred vector (see all 2): ACADM (NM_000016)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACADM
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACADM

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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ACADM
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACADM
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACADM

Additional cDNA sequence:

AF251043.1 AK296045.1 AK301005.1 AK301039.1 AK301717.1 AK311022.1 AK312629.1 AK315946.1

BC005377.1 BX647734.1 M16827.1

24/27 DOTS entries (see all 27):

DT.100677108 DT.100826152 DT.95189114 DT.216019 DT.100826150 DT.92447986 DT.92447991 DT.100826151

DT.95189097 DT.75200023 DT.92447983 DT.95189110 DT.100826147 DT.91806631 DT.40266052 DT.95189109

DT.100684055 DT.100842964 DT.102830966 DT.121438492 DT.95189108 DT.95189115 DT.97859460 DT.100036329

24/271 AceView cDNA sequences (see all 271):

AI569419 BU742862 AA278487 BM972772 BI712079 AU076842 BM541774 BU742405

CB147021 BM846675 AI078274 CA389549 BP352127 BM711350 BP340754 AA126940

NM_000016 BG779108 AU117754 M16827 BP376935 BG394024 BM465719 BP366783

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ACADM (see all 8) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2a	·	2b	^	3	^	4	^	5a	·	5b	·	5c	·	5d	^	6	^	7a	·	7b	^	8	^	9a	·	9b	^	10a	·	10b	^	11	^	12a	·	12b	^	13
SP1:									-								-		-		-		-				-																		-
SP2:																	-		-		-		-				-																		-
SP3:									-
SP4:
SP5:

ECgene alternative splicing isoforms for ACADM

(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

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

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

SOURCE GeneReport for Unigene cluster: Hs.445040

SABiosciences Expression via Pathway-Focused PCR Arrays including ACADM:

Fatty Acid Metabolism in human mouse rat

Amino Acid Metabolism II in human mouse rat

Amino Acid Metabolism I in human mouse rat

PPAR Targets 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 ACADM Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACADM

In Situ
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(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)
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This gene was present in the common ancestor of animals.

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

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	ACADM⁶	--	82(a)	1 ↔ 1	GL343194.1(3322615-3334837)
African clawed frog (Xenopus laevis)	Amphibia	Xl.23817²	Xenopus laevis transcribed sequence with moderate similarity more	76.39(n)		BQ732600.1
zebrafish (Danio rerio)	Actinopterygii	Dr.7343²	Danio rerio mRNA similar to acyl-Coenzyme A dehydrogenase, more	77.73(n)		BC045911.1
fruit fly (Drosophila melanogaster)	Insecta	CG12262^{1 , 3}	fatty acid beta-oxidation acyl-CoA dehydrogenase³ CG12262¹	69(a)³ 61.49(n)¹ 70.44(a)¹		66A10³ 38864¹ NM_139892.2¹ NP_648149.1¹
worm (Caenorhabditis elegans)	Secernentea	T08G2.3³ acdh-10¹	acyl-CoA dehydrogenase³ Acyl CoA DeHydrogenase¹	64(a) (best of 5)³ 63.03(n)¹ 64.1(a)¹		X(17244066-17245695)³ 181757¹ NM_078387.2¹ NP_510788.1¹

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ACADM gene

ACADL² ACAD8² ACADSB² ACAD11² GCDH² ACADS² ACAD9² ACAD10²

IVD² ACADVL²

9 SIMAP similar genes for ACADM using alignment to 10 protein entries: ACADM_HUMAN (see all proteins):

DKFZp686M24262 ACAD8 ACADSB ACAD9 IVD ACADS

ACADL ACADVL ACAD11

ACADM 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)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121434274^1,2	C	pathogenic	89244310(+)	`GTGACA/GGAGCT`	4	R G	mis¹		0	--	--	--	--
rs121434278^1,2	C	pathogenic	89253725(+)	`CCAACG/AGAGGA`	4	/R /G	mis¹		1		EU	1323
rs121434280^1,2	C,F	pathogenic	89261101(+)	`CAGAAT/CATGAT`	4	/H /Y	mis¹		2		NA EU	5467
rs77931234^1,2	C,F,	probable-non-pathogenic	89232755(-)	`AACTTT/CCATTG`	4	/K /E	mis¹		2		NA EU	5827
rs74090710^1,2	C,	--	74318077(+)	`GAACGT/CTGGCG`	2	--	us2k¹		2		WA	120
rs12093452^1,2	F,H,	--	74318442(+)	`gtaacG/Aatggt`	2	--	us2k¹		5		NS EA WA	522
rs112865984^1,2		--	74318637(+)	`GTTTTC/TACCTT`	2	--	us2k¹		1		CSA	2
rs78163648^1,2		--	74318737(+)	`ACAAGA/TACAGA`	2	--	us2k¹		0	--	--	--	--
rs11801489^1,2	C,F,H,	--	74319246(+)	`AATTCC/TTAATC`	2	--	us2k¹		13		NS EA NA WA	1536
rs11809592^1,2	C,F,H,	--	74319288(+)	`CCACCA/TCCACT`	2	--	us2k¹		12		NS EA NA WA	1420

HapMap Linkage Disequilibrium report for ACADM (76190036 - 76253260 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ACADM: --
Human Gene Mutation Database (HGMD): ACADM

Locus Specific Mutation Databases (LSDB): ACADM

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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

ACADM for disorders           About GeneDecksing

OMIM gene information: 607008
OMIM disorders: 201450
UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310

Defects in ACADM are the cause of acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]. It is

an autosomal recessive disease which causes fasting hypoglycemia, hepatic dysfunction, and encephalopathy, often

resulting in death in infancy

20/35 diseases for ACADM (see all 35): About MalaCards

acyl-coa dehydrogenase medium-chain acyl-coenzyme a dehydrogenase deficiency short-chain acyl-coa dehydrogenase deficiency sudden infant death syndrome

hypoglycemia fatty acid oxidation disorders multiple carboxylase deficiency hepatitis

adrenal hyperplasia reye syndrome congenital hypothyroidism galactosemia

autosomal recessive disease generalized epilepsy metabolic disorders phenylketonuria

fatty liver disease acute liver failure cystic fibrosis intellectual disability

10/28 Novoseek disease relationships for ACADM gene (see all 28) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mcad deficiency	99.5	524	9797589 (9), 18188679 (8), 9365395 (7), 8488845 (7) (see all 99)
scad deficiency	87.5	3	11524729 (1), 18836889 (1)
reye-like syndrome	76.9	3	11763681 (1), 1601002 (1), 1775402 (1)
reye syndrome	73.7	6	12892042 (2), 2279505 (1), 8840534 (1), 2387217 (1) (see all 5)
sudden infant death syndrome	73.5	22	15466077 (3), 16617370 (1), 8840534 (1), 19551636 (1) (see all 16)
metabolic disorder	72.2	24	8033926 (2), 10913960 (1), 12487544 (1), 1570195 (1) (see all 22)
aciduria organic	68.9	1	2208722 (1)
phenylketonurias	64.4	6	16984060 (1), 19191006 (1), 11392180 (1), 15559414 (1) (see all 5)
hypoglycemia	63.2	13	2387217 (2), 7929823 (2), 9498103 (1), 1594327 (1) (see all 11)
multiple carboxylase deficiency	62	1	11400759 (1)

Genatlas disease: ACADM

dicarboxylic aciduria,non ketotic hypoglycemia,Reye-like syndrome,sudden infant death syndrome

GeneTests: ACADM

Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Genetic Association Database (GAD): ACADM
Human Genome Epidemiology (HuGE) Navigator: ACADM (22 documents)

Export disorders for ACADM 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)
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PubMed articles for ACADM gene, integrated from 9 sources (see all 297):
(articles sorted by number of sources associating them with ACADM)

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

Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. (PubMed id 11349232)^{1, 2, 4, 9} Andresen B.S.... Gregersen N. (2001)
Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue. (PubMed id 3035565)^{1, 2, 3} Kelly D.P....Strauss A.W. (1987)
Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli. (PubMed id 1902818)^{1, 2, 9} Gregersen N.... Ghisla S. (1991)
Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene. (PubMed id 1731887)^{1, 2, 9} Zhang Z.F....Strauss A.W. (1992)
The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? (PubMed id 9158144)^{1, 2, 9} Andresen B.S.... Gregersen N. (1997)
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. (PubMed id 7929823)^{1, 2, 9} Brackett J.C.... Strauss A.W. (1994)
Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. (PubMed id 2251268)^{1, 2, 9} Kelly D.P.... Strauss A.W. (1990)
Molecular and functional characterization of mild MCAD deficiency. (PubMed id 11409868)^{1, 2, 9} Zschocke J....Mayatepek E. (2001)
Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene. (PubMed id 8198141)^{1, 2, 9} Andresen B.S.... Gregersen N. (1994)
Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. (PubMed id 1363805)^{1, 2, 9} Tanaka K....Chen Y.-T. (1992)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 34	HGNC: 89	AceView: ACADM	Ensembl:ENSG00000117054	euGenes: HUgn34
ECgene: ACADM	Kegg: 34	H-InvDB: ACADM

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for ACADM	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADM

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

GeneCards and IP:
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acyl-CoA dehydrogenase, C-4 to C-12 straight chain

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Fatty Liver
ENZYME DEFICIENCY
Cardiomyopathy
Reye-Like Syndrome
Death Sudden
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Liver Failure
ACIDURIA ORGANIC
Congenital hypothyroidism
Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency
Cystic Fibrosis
Sudden infant death syndrome
Multiple Carboxylase Deficiency
Cardiac Hypertrophy
Adrenal Hyperplasia Congenital
SCAD DEFICIENCY
DEATH NEONATAL
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metabolic disorder
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methylmalonic aciduria
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ACADM Gene

acyl-CoA dehydrogenase, C-4 to C-12 straight chain

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