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

ACADM Gene

protein-coding   GIFtS: 67
GCID: GC01P076190

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

(Previous names: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain...)
 Explore 35 diseases affiliated with
ACADM via our new
 Human Malady Compendium 
Biological research products
for ACADM
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain1 2     Medium-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial2
MCAD1 2 3 5     EC 1.3.8.73
ACAD11 2     EC 1.3.998
MCADH1 2     EC 1.3.99.38
Acyl-Coenzyme A Dehydrogenase, C-4 To C-12 Straight Chain1 2     

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

Export aliases for ACADM gene to outside databases

Previous GC identifers: GC01P076309 GC01P075125 GC01P075606 GC01P075612 GC01P075902 GC01P074319


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACADM:
This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer
enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause
medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia,
and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different
isoforms have been found for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310
Function: This enzyme is specific for acyl chain lengths of 4 to 16




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ACADM gene promoter:
         Oct-B1   PPAR-gamma1   POU2F1   oct-B3   oct-B2   POU2F1a   PPAR-gamma2   POU2F2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACADM promoter sequence
   Search SABiosciences Chromatin IP Primers for ACADM

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


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

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

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

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

Start:
76,190,036 bp from pter      End:
76,253,260 bp from pter
Size:
63,225 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310 (See protein sequence)
Recommended Name: Medium-chain specific acyl-CoA dehydrogenase, mitochondrial precursor  
Size: 421 amino acids; 46588 Da
Cofactor: FAD
Subunit: Homotetramer. Interacts with the heterodimeric electron transfer flavoprotein ETF
Subcellular location: Mitochondrion matrix
Miscellaneous: A number of straight-chain acyl-CoA dehydrogenases of different substrate specificities are present in
mammalian tissues
Miscellaneous: Utilizes the electron transfer flavoprotein (ETF) as electron acceptor that transfers the electrons to
the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase)
5 PDB 3D structures from and Proteopedia for ACADM:
1EGC (3D)        1EGD (3D)        1EGE (3D)        1T9G (3D)        2A1T (3D)    
Secondary accessions: Q5T4U4 Q9NYF1
Alternative splicing: 2 isoforms:  P11310-1   P11310-2   

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P11310

  • 4/20 DME Specific Peptides for ACADM (P11310) (see all 20)
     KAEKKGD  QKKKYLG  WRSQHTK  KMWITNG 

    ACADM Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_000007.1  NP_001120800.1  

    ENSEMBL proteins: 
     ENSP00000359878   ENSP00000434092   ENSP00000431953   ENSP00000432522   ENSP00000359871  
     ENSP00000431372   ENSP00000435584   ENSP00000434823   ENSP00000409612   ENSP00000434284  
     ENSP00000442324   ENSP00000446176  
    Reactome Protein details: P11310
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for ACADM
    Uscn Proteins for ACADM

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005759mitochondrial matrix TAS--
    GO:0030424axon IDA--
    GO:0031966mitochondrial membrane ----


    ACADM for ontologies           About GeneDecksing



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

    ACADM for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR006090 Acyl-CoA_Oxase/DH_1
     IPR009100 AcylCoA_DH/oxidase
     IPR013786 AcylCoA_DH/ox_N
     IPR006091 Acyl-CoA_Oxase/DH_cen-dom
     IPR006089 Acyl-CoA_DH_CS

    Graphical View of Domain Structure for InterPro Entry P11310

    ProtoNet protein and cluster: P11310

    1 Blocks protein family: IPB006089 Acyl-CoA dehydrogenase

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310
    Function: This enzyme is specific for acyl chain lengths of 4 to 16
    Catalytic activity: A medium-chain acyl-CoA + electron-transfer flavoprotein = a medium-chain trans-2,3-dehydroacyl-CoA
    + reduced electron-transfer flavoprotein

         Genatlas biochemistry entry for ACADM:
    acyl-CoA dehydrogenase,medium chain (C6-C12),mitochondrial,fatty acid beta-oxidation

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

    miRNA
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    hsa-mir-98 (MIRT004953)

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    hsa-miR-3163 hsa-miR-3148
    SwitchGear 3'UTR luciferase reporter plasmidACADM 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000062fatty-acyl-CoA binding ----
    GO:0003995acyl-CoA dehydrogenase activity TAS--
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
    GO:0016853isomerase activity ----
    GO:0042802identical protein binding IDA19224950


    ACADM for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Acadmtm1Uab for ACADM
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Acadm):
     cardiovascular system  homeostasis/metabolism  liver/biliary system  mortality/aging  muscle 

    ACADM for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/10 super-pathways (see all 10About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Beta oxidation of lauroyl-CoA to decanoyl-CoA-CoA
    Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoA0.67
    mitochondrial fatty acid beta-oxidation of unsaturated fatty acids0.38
    Beta oxidation of octanoyl-CoA to hexanoyl-CoA0.67
    Mitochondrial Fatty Acid Beta-Oxidation0.33
    mitochondrial fatty acid beta-oxidation of saturated fatty acids0.62
    2Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
    Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)1.00
    Fatty acid, triacylglycerol, and ketone body metabolism0.52
    PPARA Activates Gene Expression0.74
    3Metabolism
    Metabolism1.00
    Metabolism of lipids and lipoproteins0.34
    Metabolic pathways0.38
    4Fatty Acid Beta Oxidation
    Fatty Acid Beta Oxidation1.00
    Fatty acid metabolism0.32
    Mitochondrial LC-Fatty Acid Beta-Oxidation0.35
    5Branched-chain amino acid catabolism
    Valine, leucine and isoleucine degradation0.39
    Propanoate metabolism0.07

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

    5/11        Reactome Pathways for ACADM (see all 11)
        mitochondrial fatty acid beta-oxidation of saturated fatty acids
    Metabolism
    Expression of ACADM
    Fatty acid, triacylglycerol, and ketone body metabolism
    Mitochondrial Fatty Acid Beta-Oxidation


    5/6         Kegg Pathways  (Kegg details for ACADM) (see all 6):
        Fatty acid metabolism
    Valine, leucine and isoleucine degradation
    beta-Alanine metabolism
    Propanoate metabolism
    Metabolic pathways

    UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310
    Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation


    ACADM for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ACADM

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

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

    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): 5/25 biological process terms (GO ID links to tree view) (see all 25):    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--


    ACADM for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACADM for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACADM

    10/39 HMDB Compounds for ACADM (see all 39)    About this table
    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

    10/43 Novoseek chemical compound relationships for ACADM gene (see all 43)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    acyl-coa 97.3 334 2345678 (3), 1363805 (3), 8102510 (2), 7905878 (2) (see all 99)
    cis-4-decenoic acid 95.6 4 8154855 (1), 8056418 (1), 7586519 (1), 17987455 (1)
    octanoylcarnitine 95.5 17 8496747 (3), 9365395 (3), 1635814 (2), 8650121 (1) (see all 11)
    3-phenylpropionylglycine 94.6 8 1541011 (3), 2345678 (1), 8419594 (1), 8154855 (1) (see all 5)
    suberylglycine 94.1 1 18203188 (1)
    hexanoylglycine 90.8 2 18203188 (1), 17186412 (1)
    methylenecyclopropyl acetyl-coa 86.5 7 2331485 (2)
    hexanoylcarnitine 86.5 2 1635814 (2)
    iacoa 85.1 1 8218225 (1)
    decanoylcarnitine 83.2 2 8650121 (1)

    Search CenterWatch for drugs/clinical trials and news about ACADM 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ACADM gene (2 alternative transcripts): 
    NM_000016.4  NM_001127328.1  

    Unigene Cluster for ACADM:

    Acyl-CoA dehydrogenase, C-4 to C-12 straight chain
    Hs.445040  [show with all ESTs]
    Unigene Representative Sequence: NM_001127328
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000370841(uc010orc.1 uc010ord.2 uc001dgw.4 uc009wbp.3 uc009wbr.3 uc010ore.2 uc010orf.2 uc010org.2)
    ENST00000525881 ENST00000526129 ENST00000526196 ENST00000534146 ENST00000532509
    ENST00000370834 ENST00000473018 ENST00000530953 ENST00000534334(uc009wbs.1)
    ENST00000525808 ENST00000420607 ENST00000529059 ENST00000526930 ENST00000532207
    ENST00000528016 ENST00000481374 ENST00000541113

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    Inhib. RNA
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    Additional cDNA sequence: 

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

    24/27 DOTS entries (see all 27):

    DT.100677108  DT.100826152  DT.95189114  DT.216019  DT.100826150  DT.92447986  DT.92447991  DT.100826151 
    DT.95189097  DT.75200023  DT.92447983  DT.95189110  DT.100826147  DT.91806631  DT.40266052  DT.95189109 
    DT.100684055  DT.100842964  DT.102830966  DT.121438492  DT.95189108  DT.95189115  DT.97859460  DT.100036329 

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

    AI569419 BU742862 AA278487 BM972772 BI712079 AU076842 BM541774 BU742405 
    CB147021 BM846675 AI078274 CA389549 BP352127 BM711350 BP340754 AA126940 
    NM_000016 BG779108 AU117754 M16827 BP376935 BG394024 BM465719 BP366783 

    GeneLoc Exon Structure

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

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13
    SP1:                          -                       -     -     -     -           -                                                     -         
    SP2:                                                  -     -     -     -           -                                                     -         
    SP3:                          -                                                                                                                     
    SP4:                                                                                                                                                
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    ECgene alternative splicing isoforms for ACADM

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

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

    SOURCE GeneReport for Unigene cluster: Hs.445040
        SABiosciences Expression via Pathway-Focused PCR Arrays including ACADM: 
              Fatty Acid Metabolism in human mouse rat
              Amino Acid Metabolism II in human mouse rat
              Amino Acid Metabolism I in human mouse rat
              PPAR Targets in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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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 animals.

    Orthologs for ACADM gene from 5/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    lizard
    (Anolis carolinensis)
    Reptilia ACADM6
    --
    82(a)
    1 ↔ 1
    GL343194.1(3322615-3334837)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.238172 Xenopus laevis transcribed sequence with moderate similarity more 76.39(n)    BQ732600.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.73432 Danio rerio mRNA similar to acyl-Coenzyme A dehydrogenase, more 77.73(n)    BC045911.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG122621 , 3 fatty acid beta-oxidation acyl-CoA
    dehydrogenase3
    CG122621
    69(a)3
    61.49(n)1
    70.44(a)1
      66A103
    388641  NM_139892.21  NP_648149.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T08G2.33
    acdh-101
    acyl-CoA dehydrogenase3
    Acyl CoA DeHydrogenase1
    64(a)
    (best of 5)3
    63.03(n)1
    64.1(a)1
      X(17244066-17245695)3
    1817571  NM_078387.21  NP_510788.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ACADM gene
    ACADL2  ACAD82  ACADSB2  ACAD112  GCDH2  ACADS2  ACAD92  ACAD102  
    IVD2  ACADVL2  
    9 SIMAP similar genes for ACADM using alignment to 10 protein entries:     ACADM_HUMAN (see all proteins):
    DKFZp686M24262    ACAD8    ACADSB    ACAD9    IVD    ACADS
    ACADL    ACADVL    ACAD11

    ACADM for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/815 NCBI SNPs in ACADM are shown (see all 815    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214342741,2
    Cpathogenic89244310(+) GTGACA/GGAGCT 4 R G mis10--------
    rs1214342781,2
    Cpathogenic89253725(+) CCAACG/AGAGGA 4 /R /G mis11Minor allele frequency- A:0.00EU 1323
    rs1214342801,2
    C,Fpathogenic89261101(+) CAGAAT/CATGAT 4 /H /Y mis12Minor allele frequency- C:0.00NA EU 5467
    rs779312341,2
    C,F,probable-non-pathogenic89232755(-) AACTTT/CCATTG 4 /K /E mis12Minor allele frequency- C:0.01NA EU 5827
    rs740907101,2
    C,--74318077(+) GAACGT/CTGGCG 2 -- us2k12Minor allele frequency- C:0.06WA 120
    rs120934521,2
    F,H,--74318442(+) gtaacG/Aatggt 2 -- us2k15Minor allele frequency- A:0.04NS EA WA 522
    rs1128659841,2
    --74318637(+) GTTTTC/TACCTT 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs781636481,2
    --74318737(+) ACAAGA/TACAGA 2 -- us2k10--------
    rs118014891,2
    C,F,H,--74319246(+) AATTCC/TTAATC 2 -- us2k113Minor allele frequency- T:0.06NS EA NA WA 1536
    rs118095921,2
    C,F,H,--74319288(+) CCACCA/TCCACT 2 -- us2k112Minor allele frequency- T:0.06NS EA NA WA 1420

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

    Locus Specific Mutation Databases (LSDB): ACADM

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ACADM for disorders           About GeneDecksing

    OMIM gene information: 607008   
    OMIM disorders: 201450  
    UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310
  • Defects in ACADM are the cause of acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]. It is
  • an autosomal recessive disease which causes fasting hypoglycemia, hepatic dysfunction, and encephalopathy, often
    resulting in death in infancy

    20/35 diseases for ACADM (see all 35):    About MalaCards
    acyl-coa dehydrogenase    medium-chain acyl-coenzyme a dehydrogenase deficiency    short-chain acyl-coa dehydrogenase deficiency    sudden infant death syndrome
    hypoglycemia    fatty acid oxidation disorders    multiple carboxylase deficiency    hepatitis
    adrenal hyperplasia    reye syndrome    congenital hypothyroidism    galactosemia
    autosomal recessive disease    generalized epilepsy    metabolic disorders    phenylketonuria
    fatty liver disease    acute liver failure    cystic fibrosis    intellectual disability

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

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

    Genatlas disease: ACADM
    dicarboxylic aciduria,non ketotic hypoglycemia,Reye-like syndrome,sudden infant death syndrome

    GeneTests: ACADM
    Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency

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

    Export disorders for ACADM gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ACADM gene, integrated from 9 sources (see all 297):
    (articles sorted by number of sources associating them with ACADM)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (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. (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. (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. (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. (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. (1994)
    7. Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. (PubMed id 2251268)1, 2, 9 Kelly D.P.... Strauss A.W. (1990)
    8. Molecular and functional characterization of mild MCAD deficiency. (PubMed id 11409868)1, 2, 9 Zschocke J....Mayatepek E. (2001)
    9. Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene. (PubMed id 8198141)1, 2, 9 Andresen B.S.... Gregersen N. (1994)
    10. Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. (PubMed id 1363805)1, 2, 9 Tanaka K....Chen Y.-T. (1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 34 HGNC: 89 AceView: ACADM Ensembl:ENSG00000117054 euGenes: HUgn34
    ECgene: ACADM Kegg: 34 H-InvDB: ACADM

    (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 ACADM Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ACADM

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



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