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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACADL Gene

protein-coding   GIFtS: 63
GCID: GC02M211052

Acyl-CoA Dehydrogenase, Long Chain

(Previous names: acyl-Coenzyme A dehydrogenase, long chain)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Acyl-CoA Dehydrogenase, Long Chain1 2     Long-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial2
LCAD2 3 5     EC 1.3.8.83
Acyl-Coenzyme A Dehydrogenase, Long Chain1 2     EC 1.3.998
ACAD42     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 Gene:
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)

GeneCards Summary for ACADL Gene: 
ACADL (acyl-CoA dehydrogenase, long chain) is a protein-coding gene. Diseases associated with ACADL include lcad deficiency, and very long-chain acyl-coenzyme a dehydrogenase deficiency, and among its related super-pathways are Metabolic pathways and Fatty Acid Beta Oxidation. GO annotations related to this gene include acyl-CoA dehydrogenase activity and flavin adenine dinucleotide binding. An important paralog of this gene is ACAD8.




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
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 plasmidACADL 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for ACADL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P28330

  • 3 DME Specific Peptides for ACADL (P28330)
     KGRKLHK  TEPGAGSD  EFMFEETRNYV 

    ACADL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ACADL Protein Expression
    REFSEQ proteins: NP_001599.1  
    ENSEMBL proteins: 
     ENSP00000233710  
    Reactome Protein details: P28330
    Human Recombinant Protein Products for ACADL: 
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    ProSpec Recombinant Protein for ACADL
    Cloud-Clone Corp. Proteins for ACADL 

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

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

    ACADL for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/7 InterPro protein domains (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 domain: IPB006089 Acyl-CoA dehydrogenase

    UniProtKB/Swiss-Prot: ACADL_HUMAN, P28330
    Similarity: Belongs to the acyl-CoA dehydrogenase family


    ACADL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding IEA--
    GO:0003995acyl-CoA dehydrogenase activity TAS--
    GO:0004466long-chain-acyl-CoA dehydrogenase activity ISS--
    GO:0016401palmitoyl-CoA oxidase activity ISS--
    GO:0016491oxidoreductase activity ----
         
    ACADL for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
         MGI mouse knock-out Acadltm1Uab for ACADL

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ACADL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ACADL

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    SwitchGear 3'UTR luciferase reporter plasmidACADL 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ACADL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.40
    2Fatty Acid Beta Oxidation
    Fatty Acid Beta Oxidation0.35
    Fatty acid degradation0.32
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    3Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
    Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA0.67
    Mitochondrial Fatty Acid Beta-Oxidation0.53
    mitochondrial fatty acid beta-oxidation of saturated fatty acids0.62
    mitochondrial fatty acid beta-oxidation of unsaturated fatty acids0.50
    Beta oxidation of myristoyl-CoA to lauroyl-CoA0.60
    4Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    5PPAR signaling pathway
    PPAR signaling pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for ACADL
        Fatty Acid Beta Oxidation
    Mitochondrial LC-Fatty Acid Beta-Oxidation


    5/8        Reactome Pathways for ACADL (see all 8)
        mitochondrial fatty acid beta-oxidation of saturated fatty acids
    Metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism
    Mitochondrial Fatty Acid Beta-Oxidation
    Beta oxidation of myristoyl-CoA to lauroyl-CoA


    3         Kegg Pathways  (Kegg details for ACADL):
        Fatty acid degradation
    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 CentralTM 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)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    HNRNPKP619783I2D: score=1 
    ACAA1ENSP000003336644STRING: ENSP00000333664
    ACAA2ENSP000002850934STRING: ENSP00000285093
    ACADMENSP000004096124STRING: ENSP00000409612
    ACSL1ENSP000002814554STRING: ENSP00000281455
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001659temperature homeostasis ISS--
    GO:0006635fatty acid beta-oxidation TAS--
    GO:0008152metabolic process ----
    GO:0019254carnitine metabolic process, CoA-linked ISS--
    GO:0033539fatty acid beta-oxidation using acyl-CoA dehydrogenase ISS--

    ACADL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
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    Browse Tocris compounds for ACADL

    10/35 HMDB Compounds for ACADL (see all 35)    About this table
    CompoundSynonyms CAS #PubMed Ids
    (2E)-Decenoyl-CoA(E)-S-2-decenoate Coenzyme A (see all 15)10018-95-8--
    (2E)-Dodecenoyl-CoA2-trans-Dodecenoyl-Coenzyme A (see all 4)1066-12-2--
    (2E)-Hexadecenoyl-CoAtrans-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-CoA2-methylbutanoyl-CoA (see all 11)6712-02-3--
    2-Methylhexanoyl-CoA2-Methylhexanoyl-CoEnzyme A (see all 5)----
    3Z-dodecenoyl-CoAS-[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-CoAS-Acetyl coenzyme A (see all 13)72-89-9--
    Acrylyl-CoAAcryloyl coenzyme A (see all 14)5776-58-9--

    6 Novoseek inferred 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 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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

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    Additional mRNA 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):

    T41038 AA953552 AI128539 BQ574655 M74096 CB164599 AI972559 BQ012593 
    T40152 CR592258 BC039063 AW299465 BC064549 BG191869 NM_001608 AL573994 
    AA112209 CD172139 BE221823 CF530048 CA429824 BQ017077 BX458599 BX641311 

    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)      ACADL embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTTACCTG
    ACADL Expression
    About this image


    ACADL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/15 selected tissues (see all 15) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
             Thalamus
             brain/midbrain   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             visceral organ   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             heart/atrium   
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   

    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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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ACADL gene from 5/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acadl1 , 5 acyl-Coenzyme A dehydrogenase, long-chain1, 5 83.84(n)1
    86.95(a)1
      1 (33.64 cM)5
    113631  NM_007381.31  NP_031407.21 
     668308395 
    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
    Uncharacterized protein
    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 


    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  GCDH2  ACAD112  ACADS2  ACAD92  ACADM2  ACAD102  
    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, 4UniProtKB, 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

    10/623 SNPs in ACADL are shown (see all 623)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22869631,2,4
    C,F,O,Huntested1210448218(+) TAATTG/TATGTT 2 K Q mis130Minor allele frequency- N:0.00NA EA NS CSA WA EU 8821
    rs114036911,2
    C--202899181(+) AAAAA-/ACTATT 1 -- int10--------
    rs1137506021,2
    C--202923987(+) AAAATAATAA/
            
    AATAA
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1900511241,2
    --202932484(+) ACAAAA/CAAAAA 1 -- int10--------
    rs1846067411,2
    --210440405(+) GAGGCC/TGAGGT 1 -- ds50010--------
    rs1469227991,2
    --210440445(+) CCAGCC/TTGACC 1 -- ds50010--------
    rs2636841,2
    C,F,H--210440454(+) ccaacA/Gtggcg 1 -- ds50018Minor allele frequency- G:0.19NA WA CSA 16
    rs1408596251,2
    --210440527(+) CAGCTA/GCTCAG 1 -- ds50010--------
    rs1501639571,2
    --210440610(+) TCCTTC/GAATGA 1 -- ds50010--------
    rs1890059511,2
    --210440852(+) TTTTAA/CGTCTT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for ACADL (211052663 - 211090215 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for ACADL: --

    Human Gene Mutation Database (HGMD): ACADL
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ACADL
    DNA2.0 Custom Variant and Variant Library Synthesis for ACADL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609576   
    OMIM disorders: 201460  
    UniProtKB/Swiss-Prot: ACADL_HUMAN, P28330
  • 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. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • 11 diseases for ACADL:    About MalaCards
    lcad deficiency    very long-chain acyl-coenzyme a dehydrogenase deficiency    hypoglycemia    fatty acid oxidation disorders
    fatty liver disease    sudden infant death syndrome    hypotonia    liver disease
    myopathy    tuberculosis    pancreatitis


    ACADL for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    5 Novoseek inferred 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

    Genetic Association Database (GAD): ACADL
    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 53):
    (articles sorted by number of sources associating them with ACADL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. A genome-wide perspective of genetic variation in hum an metabolism. (PubMed id 20037589)1, 4 Illig T....Suhre K. (2010)
    3. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations. (PubMed id 18660489)1, 4 Lu Y....Boer J.M. (2008)
    6. 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)
    7. 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)
    8. 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)
    9. 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)
    10. 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)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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
    NameDescription
    PharmGKB entry for ACADL Pharmacogenomics, SNPs, Pathways

    (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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    About This Section

     
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