Human Gene ACADM (ENST00000370834.9) from GENCODE V44
Description: Homo sapiens acyl-CoA dehydrogenase medium chain (ACADM), transcript variant 5, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_001286043)
RefSeq Summary (NM_001286043): 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].
Gencode Transcript: ENST00000370834.9
Gencode Gene: ENSG00000117054.15
Transcript (Including UTRs)
Position: hg38 chr1:75,724,709-75,763,491 Size: 38,783 Total Exon Count: 13 Strand: +
Coding Region
Position: hg38 chr1:75,724,788-75,762,763 Size: 37,976 Coding Exon Count: 13
Data last updated at UCSC: 2023-08-18 00:09:47
Sequence and Links to Tools and Databases
Comments and Description Text from UniProtKB
ID: Q5T4U5_HUMAN
DESCRIPTION: SubName: Full=Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain; SubName: Full=Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain, isoform CRA_a; SubName: Full=Medium-chain-specific acyl-CoA dehydrogenase, mitochondrial;
SIMILARITY: Belongs to the acyl-CoA dehydrogenase family.
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: ACADM
Diseases sorted by gene-association score: acyl-coa dehydrogenase, medium chain, deficiency of * (1606), medium-chain acyl-coenzyme a dehydrogenase deficiency * (519), fasting hypoglycemia (29), sudden infant death syndrome (20), acyl-coa dehydrogenase, short-chain, deficiency of (18), reye syndrome (18), hypoglycemia (17), 3-hydroxyacyl-coa dehydrogenase deficiency (14), fatty acid oxidation disorders (11), organic acidemia (10), total anomalous pulmonary venous return 1 (10), encephalopathy (9), phenylketonuria (9), alcoholic cardiomyopathy (8), arrhythmogenic right ventricular cardiomyopathy (2)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
Press "+" in the title bar above to open this section.
mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Protein Domain and Structure Information
InterPro Domains: Graphical view of domain structure IPR006089 - Acyl-CoA_DH_CS
IPR006092 - Acyl-CoA_DH_N
IPR006090 - Acyl-CoA_Oxase/DH_1
IPR006091 - Acyl-CoA_Oxase/DH_cen-dom
IPR009075 - AcylCo_DH/oxidase_C
IPR013786 - AcylCoA_DH/ox_N
IPR009100 - AcylCoA_DH/oxidase
Pfam Domains: PF00441 - Acyl-CoA dehydrogenase, C-terminal domain
PF02770 - Acyl-CoA dehydrogenase, middle domain
PF02771 - Acyl-CoA dehydrogenase, N-terminal domain
ModBase Predicted Comparative 3D Structure on Q5T4U5
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Descriptions from all associated GenBank mRNAs
HM005320 - Homo sapiens clone HTL-T-7 testicular tissue protein Li 7 mRNA, complete cds.LF383840 - JP 2014500723-A/191343: Polycomb-Associated Non-Coding RNAs.MA619417 - JP 2018138019-A/191343: Polycomb-Associated Non-Coding RNAs.AK301039 - Homo sapiens cDNA FLJ55794 complete cds, highly similar to Medium-chain specific acyl-CoA dehydrogenase, mitochondrial precursor (EC 1.3.99.3).AK315946 - Homo sapiens cDNA, FLJ78845 complete cds, highly similar to Medium-chain specific acyl-CoA dehydrogenase, mitochondrial precursor (EC 1.3.99.3).BX647734 - Homo sapiens mRNA; cDNA DKFZp686M24262 (from clone DKFZp686M24262).BC005377 - Homo sapiens acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain, mRNA (cDNA clone MGC:12493 IMAGE:3934299), complete cds.AK301717 - Homo sapiens cDNA FLJ53936 complete cds, highly similar to Medium-chain specific acyl-CoA dehydrogenase, mitochondrial precursor (EC 1.3.99.3).AK312629 - Homo sapiens cDNA, FLJ93013, Homo sapiens acyl-Coenzyme A dehydrogenase, C-4 to C-12 straightchain (ACADM), nuclear gene encoding mitochondrial protein, mRNA.AK311022 - Homo sapiens cDNA, FLJ18064.AK296045 - Homo sapiens cDNA FLJ52595 complete cds, highly similar to Medium-chain specific acyl-CoA dehydrogenase, mitochondrial precursor (EC 1.3.99.3).M16827 - Human medium-chain acyl-CoA dehydrogenase (ACADM) mRNA, complete cds.AF251043 - Homo sapiens medium-chain acyl-CoA dehydrogenase mRNA, complete cds.DQ895710 - Synthetic construct Homo sapiens clone IMAGE:100010170; FLH186869.01L; RZPDo839B0562D acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain (ACADM) gene, encodes complete protein.DQ892341 - Synthetic construct clone IMAGE:100004971; FLH186873.01X; RZPDo839B0572D acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain (ACADM) gene, encodes complete protein.KJ890612 - Synthetic construct Homo sapiens clone ccsbBroadEn_00006 ACADM gene, encodes complete protein.KR710152 - Synthetic construct Homo sapiens clone CCSBHm_00010090 ACADM (ACADM) mRNA, encodes complete protein.KR710153 - Synthetic construct Homo sapiens clone CCSBHm_00010117 ACADM (ACADM) mRNA, encodes complete protein.KR710154 - Synthetic construct Homo sapiens clone CCSBHm_00010129 ACADM (ACADM) mRNA, encodes complete protein.KR710155 - Synthetic construct Homo sapiens clone CCSBHm_00010136 ACADM (ACADM) mRNA, encodes complete protein.KU177876 - Homo sapiens acyl-CoA dehydrogenase C-4 to C-12 straight chain isoform 1 (ACADM) mRNA, partial cds.KU177877 - Homo sapiens acyl-CoA dehydrogenase C-4 to C-12 straight chain isoform 3 (ACADM) mRNA, complete cds, alternatively spliced.KU177878 - Homo sapiens acyl-CoA dehydrogenase C-4 to C-12 straight chain isoform 4 (ACADM) mRNA, partial cds, alternatively spliced.AK301005 - Homo sapiens cDNA FLJ50422 complete cds, highly similar to Medium-chain specific acyl-CoA dehydrogenase, mitochondrial precursor (EC 1.3.99.3).AK309843 - Homo sapiens cDNA, FLJ99884.AK311185 - Homo sapiens cDNA, FLJ18227.JD468212 - Sequence 449236 from Patent EP1572962.CU675151 - Synthetic construct Homo sapiens gateway clone IMAGE:100019326 5' read ACADM mRNA.LF353676 - JP 2014500723-A/161179: Polycomb-Associated Non-Coding RNAs.MA589253 - JP 2018138019-A/161179: Polycomb-Associated Non-Coding RNAs.LF353675 - JP 2014500723-A/161178: Polycomb-Associated Non-Coding RNAs.MA589252 - JP 2018138019-A/161178: Polycomb-Associated Non-Coding RNAs.LF353673 - JP 2014500723-A/161176: Polycomb-Associated Non-Coding RNAs.MA589250 - JP 2018138019-A/161176: Polycomb-Associated Non-Coding RNAs.LF353672 - JP 2014500723-A/161175: Polycomb-Associated Non-Coding RNAs.MA589249 - JP 2018138019-A/161175: Polycomb-Associated Non-Coding RNAs.LF353671 - JP 2014500723-A/161174: Polycomb-Associated Non-Coding RNAs.MA589248 - JP 2018138019-A/161174: Polycomb-Associated Non-Coding RNAs.LF353670 - JP 2014500723-A/161173: Polycomb-Associated Non-Coding RNAs.MA589247 - JP 2018138019-A/161173: Polycomb-Associated Non-Coding RNAs.LF353669 - JP 2014500723-A/161172: Polycomb-Associated Non-Coding RNAs.MA589246 - JP 2018138019-A/161172: Polycomb-Associated Non-Coding RNAs.JD448707 - Sequence 429731 from Patent EP1572962.JD202897 - Sequence 183921 from Patent EP1572962.JD299377 - Sequence 280401 from Patent EP1572962.
Biochemical and Signaling Pathways
KEGG - Kyoto Encyclopedia of Genes and Genomes hsa00071 - Fatty acid metabolismhsa00280 - Valine, leucine and isoleucine degradationhsa00410 - beta-Alanine metabolismhsa00640 - Propanoate metabolismhsa01100 - Metabolic pathwayshsa03320 - PPAR signaling pathway
Other Names for This Gene
Alternate Gene Symbols: ENST00000370834.1, ENST00000370834.2, ENST00000370834.3, ENST00000370834.4, ENST00000370834.5, ENST00000370834.6, ENST00000370834.7, ENST00000370834.8, hCG_22915, NM_001286043, Q5T4U5, Q5T4U5_HUMAN, RP4-682C21.1-002, uc009wbr.1, uc009wbr.2, uc009wbr.3, uc009wbr.4, uc009wbr.5UCSC ID: ENST00000370834.9RefSeq Accession: NM_001286043
Protein: Q5T4U5
CCDS: CCDS72807.1
GeneReviews for This Gene
GeneReviews article(s) related to gene ACADM:mcad (Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency)
Methods, Credits, and Use Restrictions
Click here
for details on how this gene model was made and data restrictions if any.