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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACADL Gene

protein-coding GIFtS: 59
GCID: GC02M211052

acyl-CoA dehydrogenase, long chain

(Previous names: acyl-Coenzyme A dehydrogenase, long chain )

Explore 14 diseases affiliated with
ACADL 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, Long Chain¹ ²		Long-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial²
LCAD¹ ² ³ ⁵		EC 1.3.8.8³
ACAD4¹ ²		EC 1.3.99⁸
Acyl-Coenzyme A Dehydrogenase, Long Chain¹ ²		EC 1.3.99.13⁸

External Ids:	HGNC: 88¹	Entrez Gene: 33²	Ensembl: ENSG00000115361⁷	OMIM: 609576⁵	UniProtKB: P28330³

Export aliases for ACADL gene to outside databases

Previous GC identifers: GC02M209328 GC02M209777 GC02M211016 GC02M211255 GC02M210878 GC02M210760 GC02M202897

(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 ACADL:

The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family, which is a family of mitochondrial

flavoenzymes involved in fatty acid and branched chain amino-acid metabolism. This protein is one of the four enzymes

that catalyze the initial step of mitochondrial beta-oxidation of straight-chain fatty acid. Defects in this gene are

the cause of long-chain acyl-CoA dehydrogenase (LCAD) deficiency, leading to nonketotic hypoglycemia. (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_000002.11 NC_018913.1 NT_005403.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACADL gene promoter:
HOXA9B HOXA9 PPAR-gamma1 PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACADL promoter sequence

Search SABiosciences Chromatin IP Primers for ACADL

Epigenetics:

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

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

Entrez Gene cytogenetic band: 2q34 Ensembl cytogenetic band: 2q34 HGNC cytogenetic band: 2q34

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

GeneLoc information about chromosome 2 GeneLoc Exon Structure

GeneLoc location for GC02M211052: view genomic region (about GC identifiers)

Start:	211,052,663 bp from pter	End:	211,090,215 bp from pter
Size:	37,553 bases	Orientation:	minus 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: ACADL_HUMAN, P28330 (See protein sequence)

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

Size: 430 amino acids; 47656 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

Secondary accessions: B2R8T3 Q8IUN8

Explore the universe of human proteins at neXtProt for ACADL: NX_P28330

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P28330

3 DME Specific Peptides for ACADL (P28330)

KGRKLHK

TEPGAGSD

EFMFEETRNYV

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

REFSEQ proteins: NP_001599.1

ENSEMBL proteins:

ENSP00000233710

Reactome Protein details: P28330
Human Recombinant Protein Products:

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	Novus Biologicals ACADL Proteins
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	ProSpec Recombinant Protein for ACADL
	Uscn Proteins for ACADL

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:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	IDA	--
GO:0005759	mitochondrial matrix	TAS	--
GO:0031966	mitochondrial membrane	IEA	--

ACADL for ontologies About GeneDecksing

ACADL Antibody Products:

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	Novus Biologicals ACADL Antibodies
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	Uscn Antibodies for ACADL
	Search ThermoFisher Antibodies for ACADL

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	Uscn ELISAs and CLIAs for ACADL

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

ACADL 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 P28330

ProtoNet protein and cluster: P28330

1 Blocks protein family: IPB006089 Acyl-CoA dehydrogenase

UniProtKB/Swiss-Prot: ACADL_HUMAN, P28330

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: ACADL_HUMAN, P28330

Catalytic activity: Long-chain-acyl-CoA + electron-transfer flavoprotein = long-chain-2,3-dehydroacyl-CoA + reduced

electron-transfer flavoprotein

Genatlas biochemistry entry for ACADL:

acyl-CoA dehydrogenase,long chain (C10-C18),mitochondrial,fatty acid beta-oxidation

Enzyme Numbers (IUBMB): EC 1.3.99.13² EC 1.3.99² EC 1.3.8.8¹

miRNA Products:		OriGene 3'-UTR Clone: ACADL Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACADL
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate ACADL:
		hsa-miR-3163 hsa-miR-4265 hsa-miR-1265 hsa-miR-204 hsa-miR-526b hsa-miR-299-3p hsa-miR-4296 hsa-miR-211

		SwitchGear 3'UTR luciferase reporter plasmid: ACADL 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 ACADL (see all 7) OriGene shRNA RFP: ACADL OriGene siRNA: ACADL
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ACADL

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for ACADL

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		GenScript: all cDNA clones in your preferred vector: ACADL (NM_001608)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACADL

Gene Ontology (GO): 5 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:0004466	long-chain-acyl-CoA dehydrogenase activity	ISS	--
GO:0016401	palmitoyl-CoA oxidase activity	ISS	--
GO:0050660	flavin adenine dinucleotide binding	IEA	--

ACADL for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Acadl^tm1Uab for ACADL
     6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Acadl):

cardiovascular system	homeostasis/metabolism	liver/biliary system	mortality/aging	renal/urinary system
reproductive system

ACADL 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 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 lauroyl-CoA to decanoyl-CoA-CoA	1.00	Beta oxidation of myristoyl-CoA to lauroyl-CoA	0.60
mitochondrial fatty acid beta-oxidation of saturated fatty acids	0.62	mitochondrial fatty acid beta-oxidation of unsaturated fatty acids	0.38
Removal of 2 Carbon atoms from trans,cis-Lauro-2,6-dienoyl-CoA to form 4-cis-decenoyl-CoA	0.60	Mitochondrial Fatty Acid Beta-Oxidation	0.33
Removal of six carbons from Linoleoyl-CoA to form cis,cis-3,6- Dodecadienoyl-CoA	0.60

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

PPAR signaling pathway

PPAR signaling pathway

1.00

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

Fatty acid, triacylglycerol, and ketone body metabolism

0.52

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for ACADL

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

5/10 Reactome Pathways for ACADL (see all 10)

	mitochondrial fatty acid beta-oxidation of saturated fatty acids
	Metabolism
	Fatty acid, triacylglycerol, and ketone body metabolism
	Mitochondrial Fatty Acid Beta-Oxidation
	Removal of 2 Carbon atoms from trans,cis-Lauro-2,6-dienoyl-CoA to form 4-cis-decenoyl-CoA

3 Kegg Pathways (Kegg details for ACADL):

	Fatty acid metabolism
	Metabolic pathways
	PPAR signaling pathway

UniProtKB/Swiss-Prot: ACADL_HUMAN, P28330

Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation

ACADL for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

5/21 Interacting proteins for ACADL (P28330³ ENSP00000233710⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HNRNPK	P61978³	I2D: score=1
ACAA1	ENSP00000333664⁴	STRING: ENSP00000333664
ACAA2	ENSP00000285093⁴	STRING: ENSP00000285093
ACADM	ENSP00000409612⁴	STRING: ENSP00000409612
ACSL1	ENSP00000281455⁴	STRING: ENSP00000281455

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001659	temperature homeostasis	ISS	--
GO:0006635	fatty acid beta-oxidation	TAS	--
GO:0019254	carnitine metabolic process, CoA-linked	ISS	--
GO:0033539	fatty acid beta-oxidation using acyl-CoA dehydrogenase	ISS	--
GO:0042413	carnitine catabolic process	ISS	--

ACADL 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

ACADL for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACADL

10/35 HMDB Compounds for ACADL (see all 35) 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	--

6 Novoseek chemical compound relationships for ACADL gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
acyl-coa	91	62	9487154 (4), 9714723 (3), 1945557 (2), 20363655 (2) (see all 28)
pristanic acid	78.1	2	9714723 (1), 9487154 (1)
fatty acid	71.1	13	9714723 (2), 1945557 (1), 9861014 (1), 15142659 (1) (see all 11)
carnitine	66.4	4	20040361 (1), 11108740 (1), 16142397 (1), 11758944 (1)
lipid	15.6	2	11758944 (1)
arachidonic acid	13.3	1	10832093 (1)

Search CenterWatch for drugs/clinical trials and news about ACADL

(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 ACADL gene:

NM_001608.3

Unigene Cluster for ACADL:

Acyl-CoA dehydrogenase, long chain

Hs.471277 [show with all ESTs]

Unigene Representative Sequence: NM_001608

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

ENST00000233710(uc002vdz.4) ENST00000482502 ENST00000498120(uc010zjg.1)

ENST00000482523

miRNA Products:		OriGene 3'-UTR Clone: ACADL Browse OriGene MicroRNA Expression Plasmids
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		8 QIAGEN miScript miRNA Assays for microRNAs that regulate ACADL:
		hsa-miR-3163 hsa-miR-4265 hsa-miR-1265 hsa-miR-204 hsa-miR-526b hsa-miR-299-3p hsa-miR-4296 hsa-miR-211

		SwitchGear 3'UTR luciferase reporter plasmid: ACADL 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: ACADL (NM_001608)
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		SABiosciences RT² qPCR Primer Assay in human, mouse, rat ACADL
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ACADL
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACADL

Additional cDNA sequence:

AK296161.1 AK313498.1 BC039063.1 BC064549.1 M74096.1

3 DOTS entries:

DT.212027 DT.91878949 DT.95260019

24/56 AceView cDNA sequences (see all 56):

M74096 AW299465 AI972559 BC064549 CR592258 T40152 AI128539 CB164599

T41038 BQ574655 NM_001608 AA953552 BQ012593 BC039063 BG191869 BE221823

CD172139 BG431871 BX500199 AI367275 CD357988 BM908157 CF530048 T91017

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

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

About this image

ACADL expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Inner Nuclear Layer

Mature Horizontal Cells

Horizontal, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ACADL Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACADL

SOURCE GeneReport for Unigene cluster: Hs.471277

SABiosciences Expression via Pathway-Focused PCR Arrays including ACADL:

Fatty Acid Metabolism in human mouse rat

Fatty Liver in human mouse rat

PPAR Targets in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACADL

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACADL

(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 last universal common ancestor (LUCA).

Orthologs for ACADL gene from 5/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ACADL¹	acyl-CoA dehydrogenase, long chain	73.83(n) 78.04(a)		424005 NM_001006511.1 NP_001006511.1
lizard (Anolis carolinensis)	Reptilia	ACADL⁶	--	78(a)	1 ↔ 1	1(113397808-113417747)
African clawed frog (Xenopus laevis)	Amphibia	Xl.5962²	Xenopus laevis transcribed sequence with weak similarity more	78.78(n)		BJ626715.1
zebrafish (Danio rerio)	Actinopterygii	zgc55656²	similar to Acyl Coenzyme A dehydrogenase, long chain	75.48(n)		394156 BC044447.1
E. coli (Escherichia coli)	Gamma proteobacteria	ydiO⁶ caiA⁶	crotonobetaine reductase subunit II, FAD-binding	26(a) 24(a)	1 ↔ many 1 ↔ many	Chromosome(1775220-1776371) Chromosome(39244-40386)

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

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

Paralogs for ACADL gene

ACAD8² ACADSB² ACAD11² GCDH² ACADS² ACAD9² ACAD10² ACADM²

IVD² ACADVL²

7 SIMAP similar genes for ACADL using alignment to 1 protein entry: ACADL_HUMAN:

IVD ACAD8 ACADSB ACADM ACADS DKFZp686M24262

ACAD9

ACADL 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 2 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2286963^1,2	C,F,O,H,	probable-pathogenic	202905285(+)	`TAATTG/TATGTT`	2	K Q	mis¹		30		NA EA NS CSA WA EU	8821
rs75520497^1,2		--	202897991(+)	`ACTTAC/TGCTTG`	1	--	ut3¹		0	--	--	--	--
rs113792039^1,2	F	--	202898622(+)	`AATGAC/TTTATG`	1	--	ut3¹		1		CSA	4
rs6757575^1,2	C,H	--	202899099(+)	`ATTCAA/GTTAGT`	1	--	int¹		5		NS EA NA	418
rs78091981^1,2	F,	--	202899375(+)	`TTTATC/TTTTAA`	1	--	int¹		1		WA	118
rs73065813^1,2	C,	--	202899816(+)	`ATGGTT/AGCTAT`	1	--	int¹		2		WA	120
rs79641211^1,2	F,	--	202901398(+)	`GACCAA/GGGCTT`	1	--	int¹		1		WA	118
rs17855263^1,2	C,H	--	202902803(+)	`CCATGG/AAGCTG`	2	/L	syn¹ ese³		2		NS NA	182
rs11885370^1,2	C,F,H,	--	202903694(+)	`gcacaG/Atcata`	1	--	int¹		1		NA	4
rs61685290^1,2	C	--	202903758(+)	`TCAAGT/AAGGAG`	1	--	int¹		1		WA	2

HapMap Linkage Disequilibrium report for ACADL (211052663 - 211090215 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ACADL: --
Human Gene Mutation Database (HGMD): ACADL

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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

ACADL for disorders           About GeneDecksing

OMIM gene information: 609576
OMIM disorders: 201460
UniProtKB/Swiss-Prot: ACADL_HUMAN, P28330

Defects in ACADL are a cause of acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475]. An

inborn error of mitochondrial fatty acid beta-oxidation which leads to impaired long-chain fatty acid beta-oxidation.

It is clinically heterogeneous, with three major phenotypes: a severe childhood form characterized by early onset,

high mortality and high incidence of cardiomyopathy; a milder childhood form with later onset, characterized by

hypoketotic hypoglycemia, low mortality and rare cardiomyopathy; an adult form, with isolated skeletal muscle

involvement, rhabdomyolysis and myoglobinuria, usually triggered by exercise or fasting

14 diseases for ACADL: About MalaCards

acyl-coa dehydrogenase lcad deficiency hypoglycemia fatty acid oxidation disorders

sudden infant death syndrome fatty liver disease liver disease hypotonia

myopathy cardiomyopathy cholesterol tuberculosis

pancreatitis mycobacterium tuberculosis

5 Novoseek disease relationships for ACADL gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mcad deficiency	73.2	1	1424161 (1)
enzyme deficiency	63.9	3	8795843 (2), 15308124 (1)
cardiac hypertrophy	47.7	2	1945557 (1), 8517612 (1)
hypoglycemia	46.1	3	1945557 (1), 9861014 (1), 8517612 (1)
death sudden	23.2	1	9861014 (1)

Genatlas disease: ACADL

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

Human Genome Epidemiology (HuGE) Navigator: ACADL (6 documents)

Export disorders for ACADL 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 ACADL gene, integrated from 9 sources (see all 51):
(articles sorted by number of sources associating them with ACADL)

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

Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2. (PubMed id 1774065)^{1, 2, 3, 9} Indo Y.... Tanaka K. (1991)
Molecular cloning and nucleotide sequence of cDNAs encoding human long-chain acyl-CoA dehydrogenase and assignment of the location of its gene (ACADL) to chromosome 2. (PubMed id 1559716)^{1, 2} Indo Y....Tanaka K. (1992)
Immunochemical characterization of variant long-chain acyl-CoA dehydrogenase in cultured fibroblasts from nine patients with long-chain acyl-CoA dehydrogenase deficiency. (PubMed id 1945557)^{1, 9} Indo Y....Tanaka K. (1991)
Low expression of long-chain acyl-CoA dehydrogenase i n human skeletal muscle. (PubMed id 20363655)^{1, 9} Maher A.C....Tarnopolsky M.A. (2010)
2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation. (PubMed id 9714723)^{1, 9} Wanders R.J....Dacremont G. (1998)
Long-chain acyl-CoA dehydrogenase is a key enzyme in the mitochondrial beta-oxidation of unsaturated fatty acids. (PubMed id 10832093)^{1, 9} Lea W....Schulz H. (2000)
Regulation of the human long chain acyl-CoA dehydrogenase gene by nuclear hormone receptor transcription factors. (PubMed id 9003458)^{1, 9} Zhang Z....Strauss A.W. (1997)
Activity-based chemical proteomics accelerates inhibi tor development for deubiquitylating enzymes. (PubMed id 22118674)¹ Altun M....Kessler B.M. (2011)
A genome-wide perspective of genetic variation in hum an metabolism. (PubMed id 20037589)¹ Illig T....Suhre K. (2010)
Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)¹ Hendrickson S.L....O'Brien S.J. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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: 33	HGNC: 88	AceView: ACADL	Ensembl:ENSG00000115361	euGenes: HUgn33
ECgene: ACADL	Kegg: 33	H-InvDB: ACADL

(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 ACADL	Pharmacogenomics, SNPs, Pathways

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

About This Section

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

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

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acyl-CoA dehydrogenase, long chain

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