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ACADM Gene

protein-coding   GIFtS: 70
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)
  See ACADM-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain1 2     Medium-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial2
MCAD2 3 5     EC 1.3.8.73
Acyl-Coenzyme A Dehydrogenase, C-4 To C-12 Straight Chain1 2     EC 1.3.998
ACAD12     EC 1.3.99.38
MCADH2     

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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ACADM Gene:
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)

GeneCards Summary for ACADM Gene:
ACADM (acyl-CoA dehydrogenase, C-4 to C-12 straight chain) is a protein-coding gene. Diseases associated with ACADM include fasting hypoglycemia, and medium-chain acyl-coenzyme a dehydrogenase deficiency. GO annotations related to this gene include acyl-CoA dehydrogenase activity and identical protein binding. An important paralog of this gene is ACADL.

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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   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 plasmidACADM promoter sequence
   Search Chromatin IP Primers for ACADM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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

Explore proteomics data for ACADM at MOPED

Post-translational modifications: 

  • Acetylation at Lys-307 and Lys-311 in proximity of the cofactor-binding sites reduces catalytic activity (By
    similarity). These sites are deacetylated by SIRT31
  • Ubiquitination2 at Lys395
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ACADM (P11310) (see all 20)
     KAEKKGD  QKKKYLG  WRSQHTK  KMWITNG 


    See ACADM Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_000007.1  NP_001120800.1  NP_001272971.1  NP_001272972.1  NP_001272973.1  

    ENSEMBL proteins: 
     ENSP00000359878   ENSP00000434092   ENSP00000431953   ENSP00000432522   ENSP00000359871  
     ENSP00000431372   ENSP00000435584   ENSP00000434823   ENSP00000409612   ENSP00000434284  
     ENSP00000442324   ENSP00000446176  
    Reactome Protein details: P11310

    ACADM Human Recombinant Protein Products:

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    OriGene Purified Protein for ACADM
    OriGene Protein Over-expression Lysate for ACADM
    OriGene MassSpec for ACADM
    OriGene Custom Protein Services for ACADM
    GenScript Custom Purified and Recombinant Proteins Services for ACADM
    Novus Biologicals ACADM Proteins
    Novus Biologicals ACADM Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ACADM
    Cloud-Clone Corp. Proteins for ACADM

     
    Search eBioscience for Proteins for ACADM 

    ACADM Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for ACADM
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    ThermoFisher Antibody for ACADM
    LSBio Antibodies in human, mouse, rat for ACADM

    ACADM Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ACADM
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ACADM
    Cloud-Clone Corp. CLIAs for ACADM
    Search eBioscience for ELISAs for ACADM 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR013786 AcylCoA_DH/ox_N
     IPR006091 Acyl-CoA_Oxase/DH_cen-dom
     IPR006089 Acyl-CoA_DH_CS
     IPR009100 AcylCoA_DH/oxidase_NM_dom
     IPR009075 AcylCo_DH/oxidase_C

    Graphical View of Domain Structure for InterPro Entry P11310

    ProtoNet protein and cluster: P11310

    1 Blocks protein domain: IPB006089 Acyl-CoA dehydrogenase

    UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310
    Similarity: Belongs to the acyl-CoA dehydrogenase family


    Find genes that share domains with ACADM           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003995acyl-CoA dehydrogenase activity TAS--
    GO:0016491oxidoreductase activity ----
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
    GO:0042802identical protein binding IDA19224950
    GO:0050660flavin adenine dinucleotide binding IEA--
         
    Find genes that share ontologies with ACADM           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ACADM:
     Decreased viability of wild-ty 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Acadm):
     cardiovascular system  homeostasis/metabolism  liver/biliary system  mortality/aging  muscle 

    Find genes that share phenotypes with ACADM           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Acadmtm1Uab for ACADM

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACADM
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACADM

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACADM
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACADM

    miRNA
    Products:
        
    miRTarBase miRNAs that target ACADM:
    hsa-mir-26b-5p (MIRT028946), hsa-mir-98-5p (MIRT004953), hsa-mir-128-3p (MIRT021871)

    Block miRNA regulation of human, mouse, rat ACADM using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ACADM:
    hsa-miR-3163 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidACADM 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACADM
    Predesigned siRNA for gene silencing in human, mouse, rat ACADM

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACADM

    Clone
    Products:
         
    OriGene clones in human, mouse for ACADM (see all 11)
    OriGene ORF clones in mouse, rat for ACADM
    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)
    Sino Biological Human cDNA Clone for ACADM
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACADM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACADM

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for ACADM
    Browse ESI BIO Cell Lines and PureStem Progenitors for ACADM 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACADM


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ACADM_HUMAN, P11310: Mitochondrion matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    peroxisome2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--
    GO:0030424axon IDA--

    Find genes that share ontologies with ACADM           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ACADM About   (see all 11)  
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    Metabolic pathways0.38
    2Fatty acid, triacylglycerol, and ketone body metabolism
    Fatty acid, triacylglycerol, and ketone body metabolism0.65
    mitochondrial fatty acid beta-oxidation of saturated fatty acids0.00
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)0.65
    mitochondrial fatty acid beta-oxidation of unsaturated fatty acids0.00
    PPARA Activates Gene Expression0.63
    Mitochondrial Fatty Acid Beta-Oxidation0.00
    3Fatty acid metabolism
    Fatty acid metabolism0.42
    Fatty acid degradation0.42
    4Mitochondrial LC-Fatty Acid Beta-Oxidation
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    Fatty Acid Beta Oxidation0.35
    5Valine, leucine and isoleucine degradation
    Valine, leucine and isoleucine degradation0.31
    Propanoate metabolism0.31


    Find genes that share SuperPaths with ACADM           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    4 Reactome Pathways for ACADM
        mitochondrial fatty acid beta-oxidation of unsaturated fatty acids
    PPARA activates gene expression
    Beta oxidation of octanoyl-CoA to hexanoyl-CoA
    Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA


    Selected Kegg Pathways  (Kegg details for ACADM) (see all 8):
        Fatty acid degradation
    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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for ACADM

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

    Selected Interacting proteins for ACADM (P113103 ENSP000004096124) via UniProtKB, MINT, STRING, and/or I2D (see all 119)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    USP20Q9Y2K63, ENSP000003138114I2D: score=2 STRING: ENSP00000313811
    SUMO4Q6EEV63, ENSP000003186354I2D: score=1 STRING: ENSP00000318635
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 20):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0005978glycogen biosynthetic process IEA--
    GO:0006082organic acid metabolic process ----
    GO:0006111regulation of gluconeogenesis IEA--
    GO:0006635fatty acid beta-oxidation TAS--

    Find genes that share ontologies with ACADM           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACADM

    Selected HMDB Compounds for ACADM (see all 39)    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)----
    3-Methylcrotonyl-CoA3-Methylbut-2-enoyl-CoA (see all 14)793193-48-3--
    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--

    3 DrugBank Compounds for ACADM    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    3-Thiaoctanoyl-Coenzyme A-- --target--17139284 17016423 10592235
    Flavin-Adenine Dinucleotide-- 146-14-5target--17139284 17016423 10592235
    Octanoyl-Coenzyme A-- --target--17139284 17016423 10592235

    Selected Novoseek inferred 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)



    Find genes that share compounds with ACADM           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ACADM gene (5 alternative transcripts): 
    NM_000016.5  NM_001127328.2  NM_001286042.1  NM_001286043.1  NM_001286044.1  

    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
    Selected 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
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    2 qRT-PCR Assays for microRNAs that regulate ACADM:
    hsa-miR-3163 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidACADM 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ACADM
    Predesigned siRNA for gene silencing in human, mouse, rat ACADM
    Clone
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    OriGene clones in human, mouse for ACADM (see all 11)
    OriGene ORF clones in mouse, rat for ACADM
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACADM
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACADM
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ACADM
    OriGene qSTAR qPCR primer pairs in human, mouse for ACADM
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ACADM
      QuantiTect SYBR Green Assays in human, mouse, rat ACADM
      QuantiFast Probe-based Assays in human, mouse, rat ACADM

    Additional mRNA sequence: 

    AF251043.1 AK296045.1 AK301005.1 AK301039.1 AK301717.1 AK311022.1 AK312629.1 AK315946.1 
    BC005377.1 BX647734.1 M16827.1 

    Selected 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 

    Selected AceView cDNA sequences (see all 271):

    BP366783 CA389549 BG779108 BG394024 NM_000016 CR620592 AU108019 BF514600 
    BM711350 BP376935 BC005377 AU122828 BU742405 AI078274 AA856613 BM541774 
    AF251043 CA407577 BQ277570 CB147021 AA126940 BU742862 M16827 BM972772 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ACADM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCCAGCGAT
    ACADM Expression
    About this image


    ACADM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Midbrain tegmentum
     
     Kidney (Urinary System)
             Metanephros
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Eye (Sensory Organs)
             Lens
    ACADM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACADM Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.445040
        Pathway & Disease-focused RT2 Profiler 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
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACADM

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for ACADM gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acadm1 , 5 acyl-Coenzyme A dehydrogenase, medium chain1, 5 82.5(n)1
    87.89(a)1
      3 (78.77 cM)5
    113641  NM_007382.51  NP_031408.11 
     1539223575 
    chicken
    (Gallus gallus)
    Aves GNG116
    Gallus gallus guanine nucleotide binding protein (...
    27(a)
    many ↔ many
    2(23437564-23521756)
    lizard
    (Anolis carolinensis)
    Reptilia ACADM6
    acyl-CoA dehydrogenase, C-4 to C-12 straight chain...
    83(a)
    1 ↔ 1
    GL343194.1(3322615-3334846)
    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 CG122621 , 3 fatty acid beta-oxidation acyl-CoA
    dehydrogenase3
    CG122621
    69(a)3
    61.63(n)1
    70.79(a)1
      66A103
    388641  NM_139892.31  NP_648149.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T08G2.33
    acdh-81
    acyl-CoA dehydrogenase3
    acdh-81
    64(a)
    (best of 5)3
    62.31(n)1
    60.3(a)1
      X(17244066-17245695)3
    1739791  NM_062741.61  NP_495142.11 


    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  ACADSB2  ACAD82  GCDH2  ACAD112  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

    Find genes that share paralogs with ACADM           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACADM (see all 1000)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs779312341,2,,4
    C,FAcyl-CoA dehydrogenase medium-chain deficiency (ACADMD)4 probable-non-pathogenic176245544(-) AACTTT/CCATTG 4 /K /E mis12Minor allele frequency- C:0.01NA EU 5827
    VAR_0159564
    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)4--see VAR_0159562 T I mis40--------
    VAR_0003244
    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)4--see VAR_0003242 M T mis40--------
    VAR_0159594
    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)4--see VAR_0159592 Y C mis40--------
    VAR_0003274
    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)4--see VAR_0003272 I T mis40--------
    VAR_0003234
    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)4--see VAR_0003232 G R mis40--------
    VAR_0003174
    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)4--see VAR_0003172 R C mis40--------
    VAR_0136994
    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)4--see VAR_0136992 S L mis40--------
    VAR_0003194
    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)4--see VAR_0003192 M I mis40--------
    VAR_0159544
    Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD)4--see VAR_0159542 I T mis40--------

    HapMap Linkage Disequilibrium report for ACADM (76190036 - 76253260 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ACADM:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv830281CNV Loss17160897
    nsv870520CNV Loss21882294
    nsv519329CNV Gain19592680
    nsv871572CNV Gain21882294

    Human Gene Mutation Database (HGMD): ACADM
    Locus Specific Mutation Databases (LSDB): ACADM

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing 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

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    OMIM gene information: 607008   
    OMIM disorders: 201450  
    UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310
  • Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]: An inborn error of mitochondrial
    fatty acid beta-oxidation which causes fasting hypoglycemia, hepatic dysfunction and encephalopathy, often
    resulting in death in infancy. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 8 diseases for ACADM:    
    About MalaCards
    fasting hypoglycemia    medium-chain acyl-coenzyme a dehydrogenase deficiency    fatty acid oxidation disorders    alcoholic cardiomyopathy
    reye syndrome    multiple carboxylase deficiency    hypoglycemia    sudden infant death syndrome


    Find genes that share disorders with ACADM           About GenesLikeMe

    Selected Novoseek inferred 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
    GeneReviews: ACADM
    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 10 sources (see all 306):
    (articles sorted by number of sources associating them with ACADM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (Am. J. Hum. Genet. 2001)
    2. 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. (Proc. Natl. Acad. Sci. U.S.A. 1987)
    3. 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. (Hum. Genet. 1991)
    4. 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. (Biochemistry 1992)
    5. 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. (Hum. Mol. Genet. 1997)
    6. 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. (J. Clin. Invest. 1994)
    7. Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. (PubMed id 2251268)1, 2, 9 Kelly D.P.... Strauss A.W. (Proc. Natl. Acad. Sci. U.S.A. 1990)
    8. A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns. (PubMed id 19649258)1, 4, 9 ter Veld F....Spiekerkoetter U. (PLoS ONE 2009)
    9. A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil. (PubMed id 19551636)1, 4, 9 Ferreira A.C....Godard A.L. (Genet. Mol. Res. 2009)
    10. Molecular and functional characterization of mild MCAD deficiency. (PubMed id 11409868)1, 2, 9 Zschocke J....Mayatepek E. (Hum. Genet. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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)
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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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACADM Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ACADM[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACADM gene:
    Search GeneIP for patents involving ACADM

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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