Aliases for ACADM Gene
Aliases for ACADM Gene
External Ids for ACADM Gene
- HGNC: 89
- Entrez Gene: 34
- Ensembl: ENSG00000117054
- OMIM: 607008
- UniProtKB: P11310
Previous GeneCards Identifiers for ACADM Gene
- GC01P076309
- GC01P075125
- GC01P075606
- GC01P075612
- GC01P075902
- GC01P076190
- GC01P074319
Summaries 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 Acyl-Coa Dehydrogenase, Medium Chain, Deficiency Of and Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Beta oxidation of octanoyl-CoA to hexanoyl-CoA. GO annotations related to this gene include identical protein binding and oxidoreductase activity, acting on the CH-CH group of donors. An important paralog of this gene is ACADS.
UniProtKB/Swiss-Prot for ACADM Gene
-
Acyl-CoA dehydrogenase specific for acyl chain lengths of 4 to 16 that catalyzes the initial step of fatty acid beta-oxidation. Utilizes the electron transfer flavoprotein (ETF) as an electron acceptor to transfer electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACADM Gene
Genomics for ACADM Gene
Regulatory Elements for ACADM Gene
Enhancers for ACADM Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH01G075722 | 1.4 | Ensembl ENCODE | 18.9 | +0.8 | 765 | 6.0 | HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 | ACADM RABGGTB SNORD45A SNORD45C MSH4 DLSTP1 PIR54256 |
| GH01G075671 | 0.9 | ENCODE | 17.7 | -51.5 | -51503 | 1.8 | HDAC1 ATF1 CBX3 ARNT NFRKB TCF12 CBX5 SCRT2 FOS ZBTB2 | ACADM MSH4 LOC100421536 GC01P075675 PIR63059 |
| GH01G075784 | 1.5 | FANTOM5 ENCODE | 7.5 | +63.6 | 63598 | 7.7 | PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 ZNF766 | MSH4 RABGGTB ACADM GC01P075797 SNORD45A |
| GH01G075765 | 0.9 | Ensembl ENCODE | 9.8 | +41.5 | 41545 | 1.6 | JUN CHD1 CHD7 JUND ATF3 POLR2A SMARCA4 HDAC2 POU5F1 FOS | MSH4 ACADM RABGGTB DLSTP1 |
| GH01G076040 | 0.7 | ENCODE | 5.2 | +316.5 | 316501 | 1.6 | PKNOX1 ZNF362 NRF1 CEBPB ZNF384 ZIC2 OSR2 ZFP69B ZNF610 ZNF692 | ST6GALNAC3 LOC101927342 ACADM MSH4 ENSG00000230027 LOC105378806 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around ACADM on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the ACADM gene promoter:
Regulatory Element Products
Genomic Location for ACADM Gene
- Chromosome:
- 1
- Start:
- 75,724,347 bp from pter
- End:
- 75,787,575 bp from pter
- Size:
- 63,229 bases
- Orientation:
- Plus strand
Genomic View for ACADM Gene
Genes around ACADM on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p31.1 by Ensembl
- 1p31.1 by Entrez Gene
- 1p31.1 by HGNC
ACADM Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ACADM Gene
Proteins for ACADM Gene
-
Protein details for ACADM Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P11310-ACADM_HUMAN
- Recommended name:
- Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
- Protein Accession:
- P11310
- Q5T4U4
- Q9NYF1
Protein attributes for ACADM Gene
- Size:
- 421 amino acids
- Molecular mass:
- 46588 Da
- Cofactor:
- Name=FAD; Xref=ChEBI:CHEBI:57692;
- Quaternary structure:
-
- 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.
Three dimensional structures from OCA and Proteopedia for ACADM Gene
Protein Expression for ACADM Gene
Selected DME Specific Peptides for ACADM Gene
- P11310:
-
- INGQKMWITNGG
- CGGLGLGTFDACLI
- KKYLGRMTEEPLMCAYCVTEP
- QKKKYLG
- KMWITNG
- AEKKGDE
- TEPGAGSDV
- TEQQKEFQATARKFAREEIIPVAAEYD
- AWELGLMN
- GFSFEFTEQQKEFQATARKFAREEIIP
- EELAYGCTG
- KAEKKGD
- DIANQLATDAVQ
- WRSQHTK
- AAEYDKTGEYPVPLI
- EPGLGFSFE
- EYPVEKLMRDAKIYQIYEGT
- TEPGAGSD
- NMGQRCSDTR
- DSGRRNTYYASIAKA
Post-translational modifications for ACADM Gene
- Acetylation at Lys-307 and Lys-311 in proximity of the cofactor-binding sites reduces catalytic activity (By similarity). These sites are deacetylated by SIRT3.
- Ubiquitination at Lys395
- Modification sites at PhosphoSitePlus
Other Protein References for ACADM Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ACADM
- Novus Biologicals Antibodies for ACADM
- Invitrogen Antibodies for ACADM
- antibodies-online Antibodies for ACADM: See all 97
- GeneTex ACADM antibody for ACADM
-
Santa Cruz Biotechnology (SCBT) Antibodies for ACADM
Protein Products
-
OriGene Purified Proteins for ACADM
- Search Origene for MassSpec and Protein Over-expression Lysates for ACADM
- Origene Custom Protein Services for ACADM
- ProSpec Recombinant Proteins for ACADM
- antibodies-online Proteins for ACADM: See all 20
- Search antibodies-online for peptides
- Search GeneTex for Proteins for ACADM
-
ProSci Proteins for ACADM
Assay Products
Domains & Families for ACADM Gene
Gene Families for ACADM Gene
Protein Domains for ACADM Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ACADM Gene
- GenScript: Design optimal peptide antigens:
-
- Medium-chain specific acyl-CoA dehydrogenase, mitochondrial (ACADM_HUMAN)
- cDNA FLJ52595, highly similar to Medium-chain specific acyl-CoA dehydrogenase, mitochondrial (EC 1.3.99.3) (B4DJE7_HUMAN)
- cDNA, FLJ78845, highly similar to Medium-chain specific acyl-CoA dehydrogenase, mitochondrial (EC 1.3.99.3) (B7Z9I1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P11310- Family:
-
- Belongs to the acyl-CoA dehydrogenase family.
Function for ACADM Gene
Molecular function for ACADM Gene
- GENATLAS Biochemistry:
- acyl-CoA dehydrogenase,medium chain (C6-C12),mitochondrial,fatty acid beta-oxidation
- UniProtKB/Swiss-Prot CatalyticActivity:
- A medium-chain acyl-CoA + electron-transfer flavoprotein = a medium-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein.
- UniProtKB/Swiss-Prot Function:
- Acyl-CoA dehydrogenase specific for acyl chain lengths of 4 to 16 that catalyzes the initial step of fatty acid beta-oxidation. Utilizes the electron transfer flavoprotein (ETF) as an electron acceptor to transfer electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase).
Enzyme Numbers (IUBMB) for ACADM Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003995 | acyl-CoA dehydrogenase activity | IEA,TAS | -- |
| GO:0016491 | oxidoreductase activity | IEA | -- |
| GO:0016627 | oxidoreductase activity, acting on the CH-CH group of donors | IEA | -- |
| GO:0042802 | identical protein binding | IDA | 19224950 |
| GO:0050660 | flavin adenine dinucleotide binding | IEA | -- |
Phenotypes for ACADM Gene
- MGI mutant phenotypes for ACADM:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ACADM:
Animal Models for ACADM Gene
- MGI Knock Outs for ACADM:
-
- Acadm tm1Uab
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ACADM
-
-
ViGene Biosciences lentiviral particle packaged cDNA for ACADM gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ACADM gene
- Search ViGene Biosciences for ACADM
CRISPR Products
-
OriGene CRISPR knockouts for ACADM
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACADM
- GenScript: Design CRISPR guide RNA sequences for ACADM
miRNA for ACADM Gene
- miRTarBase miRNAs that target ACADM
miRNA Products
- Search ViGene Biosciences for ACADM
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ACADM
- Browse OriGene Inhibitory RNA Products For ACADM
-
ViGene Biosciences ready-to-package AAV shRNAs for ACADM gene
Clone Products
- Sino Biological Human cDNA Clone for ACADM
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ACADM
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACADM
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for ACADM
-
ViGene Biosciences adenoviral particle packaged cDNA for ACADM gene
-
ViGene Biosciences lentiviral particle packaged cDNA for ACADM gene
-
ViGene Biosciences ready-to-package AAV shRNAs for ACADM gene
Flow Cytometry Products
No data available for Transcription Factor Targets and HOMER Transcription for ACADM Gene
Localization for ACADM Gene
Subcellular locations from UniProtKB/Swiss-Prot for ACADM Gene
- Mitochondrion matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| mitochondrion | 5 |
| nucleus | 5 |
| peroxisome | 2 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA | 21630459 |
| GO:0005739 | mitochondrion | IDA,IEA | -- |
| GO:0005759 | mitochondrial matrix | TAS | -- |
| GO:0016607 | nuclear speck | IDA | -- |
| GO:0030424 | axon | IDA | 21237683 |
Pathways & Interactions for ACADM Gene
Pathways by source for ACADM Gene
6 BioSystems pathways for ACADM Gene
8 KEGG pathways for ACADM Gene
UniProtKB/Swiss-Prot P11310-ACADM_HUMAN
- Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation.
Interacting Proteins for ACADM Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005978 | glycogen biosynthetic process | IEA | -- |
| GO:0006082 | organic acid metabolic process | IEA | -- |
| GO:0006111 | regulation of gluconeogenesis | IEA | -- |
| GO:0006629 | lipid metabolic process | IEA | -- |
| GO:0006631 | fatty acid metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for ACADM Gene
Drugs & Compounds for ACADM Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| octanoyl-coa |
|
1264-52-4 | ||||
| (2E)-Decenoyl-CoA |
|
10018-95-8 |
|
|||
| (2E)-Dodecenoyl-CoA |
|
1066-12-2 |
|
|||
| (2E)-Hexadecenoyl-CoA |
|
4460-95-1 |
|
|||
| (2E)-Octenoyl-CoA |
|
10018-94-7 |
|
Transcripts for ACADM Gene
mRNA/cDNA for ACADM Gene
- (5) REFSEQ mRNAs :
- (11) Additional mRNA sequences :
- (271) Selected AceView cDNA sequences:
- (18) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ACADM Gene
- Acyl-CoA dehydrogenase, C-4 to C-12 straight chain:
- Representative Sequences:
CRISPR Products
-
OriGene CRISPR knockouts for ACADM
-
Santa Cruz Biotechnology (SCBT) CRISPR for ACADM
- GenScript: Design CRISPR guide RNA sequences for ACADM
miRNA Products
- Search ViGene Biosciences for ACADM
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ACADM
- Browse OriGene Inhibitory RNA Products For ACADM
-
ViGene Biosciences ready-to-package AAV shRNAs for ACADM gene
Clone Products
- Sino Biological Human cDNA Clone for ACADM
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for ACADM
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACADM
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
| 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: | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - |
Expression for ACADM Gene
mRNA differential expression in normal tissues according to GTEx for ACADM Gene
This gene is overexpressed in Muscle - Skeletal (x4.9) and Heart - Left Ventricle (x4.7).
This gene is overexpressed in Heart (10.0), Kidney (9.5), and Liver (8.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ACADM Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ACADM Gene:
ACADMSOURCE GeneReport for Unigene cluster for ACADM Gene:
Hs.445040Evidence on tissue expression from TISSUES for ACADM Gene
- Nervous system(4.8)
- Heart(4.6)
- Liver(4.6)
- Intestine(4.4)
- Kidney(3.6)
- Muscle(2.5)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ACADM Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- skeletal muscle
Organs:
Head and neck:
- brain
- ear
- head
Thorax:
- esophagus
- heart
Abdomen:
- adrenal gland
- liver
- stomach
General:
- peripheral nerve
- peripheral nervous system
- skin
- sweat gland
Primer Products
-
OriGene qPCR primer pairs for ACADM
-
OriGene qPCR primer pairs and template standards for ACADM
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ACADM Gene
Orthologs for ACADM Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ACADM 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ACADM 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ACADM 34 35 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ACADM 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Acadm 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Acadm 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ACADM 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | GNG11 35 |
|
ManyToMany | |
| lizard (Anolis carolinensis) |
Reptilia | ACADM 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | acadm 34 |
|
||
| Str.7172 34 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.23817 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | acadm 34 35 |
|
||
| Dr.7343 34 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.9778 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG12262 36 34 35 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005662 34 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | T08G2.3 36 |
|
|
|
| T25G12.5 36 |
|
|
|||
| acdh-8 34 35 |
|
||||
| K05F1.3 36 |
|
|
|||
| acdh-10 35 |
|
OneToMany | |||
| acdh-7 35 |
|
OneToMany | |||
| C02D5.1 36 |
|
|
|||
| C37A2.3 36 |
|
|
|||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne |
- Species where no ortholog for ACADM was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for ACADM Gene
Paralogs for ACADM Gene
(9) SIMAP similar genes for ACADM Gene using alignment to 10 proteins:
Variants for ACADM Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs121434274 | Pathogenic, Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] | 75,749,509(+) | GTGAC(A/G)GAGCT | reference, missense | |
| rs121434275 | Pathogenic, Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] | 75,761,300(+) | GCAGA(C/T)ACTTG | reference, missense | |
| rs121434276 | Pathogenic, Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] | 75,749,440(+) | AGCGA(C/T)GTTCA | reference, missense | |
| rs121434277 | Pathogenic, Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] | 75,734,850(+) | AGAAT(A/G/T)ACTGA | intron-variant, reference, missense | |
| rs121434278 | Pathogenic, Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] | 75,740,094(+) | CCAAC(A/G)GAGGA | reference, missense |
Residual Variation Intolerance Score:
45.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.26;
25.17% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for ACADM Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACADM Gene
Disorders for ACADM Gene
(26) MalaCards diseases for ACADM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| acyl-coa dehydrogenase, medium chain, deficiency of |
|
|
| medium-chain acyl-coenzyme a dehydrogenase deficiency |
|
|
| fasting hypoglycemia |
|
|
| acyl-coa dehydrogenase, short-chain, deficiency of |
|
|
| reye syndrome |
|
Search ACADM in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ACADM_HUMAN- 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. {ECO:0000269 PubMed:10767181, ECO:0000269 PubMed:11349232, ECO:0000269 PubMed:11409868, ECO:0000269 PubMed:11486912, ECO:0000269 PubMed:1363805, ECO:0000269 PubMed:1671131, ECO:0000269 PubMed:1684086, ECO:0000269 PubMed:1902818, ECO:0000269 PubMed:2251268, ECO:0000269 PubMed:2393404, ECO:0000269 PubMed:2394825, ECO:0000269 PubMed:7603790, ECO:0000269 PubMed:7929823, ECO:0000269 PubMed:8198141, ECO:0000269 PubMed:9158144, ECO:0000269 PubMed:9882619}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genatlas disease for ACADM Gene
dicarboxylic aciduria,non ketotic hypoglycemia,Reye-like syndrome,sudden infant death syndrome
Relevant External Links for ACADM
Publications for ACADM Gene
- 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. (PMID: 11349232) Andresen B.S. … Gregersen N. (Am. J. Hum. Genet. 2001) 3 4 22 46 64
- A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil. (PMID: 19551636) Ferreira A.C. … Godard A.L. (Genet. Mol. Res. 2009) 3 22 46 64
- A novel tandem mass spectrometry method for rapid confirmation of medium- and very long-chain acyl-CoA dehydrogenase deficiency in newborns. (PMID: 19649258) ter Veld F. … Spiekerkoetter U. (PLoS ONE 2009) 3 22 46 64
- Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. (PMID: 16291504) Waddell L. … Wilcken B. (Mol. Genet. Metab. 2006) 3 22 46 64
- Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. (PMID: 15832312) Maier E.M. … Roscher A.A. (Hum. Mutat. 2005) 3 22 46 64
Products for ACADM Gene
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- Custom Antibody ServicesOriGene Antibodies for ACADM
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for ACADM
- Search Origene for MassSpec and Protein Over-expression Lysates for ACADM
- Origene Custom Protein Services for ACADM
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for ACADM
- Browse OriGene Inhibitory RNA Products For ACADM
- OriGene qPCR primer pairs and template standards for ACADM
- OriGene qPCR primer pairs for ACADM
- OriGene CRISPR knockouts for ACADM
- OriGene ORF clones in human for ACADM
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For ACADM
- GenScript: Next-day shipping cDNA ORF clone for ACADM in any vector
- GenScript Custom Purified and Recombinant Proteins Services for ACADM
- GenScript Custom Assay Services for ACADM
- GenScript Custom overexpressing Cell Line Services for ACADM
- GenScript: Design CRISPR guide RNA sequences for ACADM
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for ACADM
- Sino Biological Human cDNA Clone for ACADM
- Browse Sino Biological Cell Lysates
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- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for ACADM
- Novus Biologicals proteins and lysates for ACADM
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- ProSpec Recombinant Proteins for ACADM
- antibodies-online Antibodies for ACADM: See all 97
- Search antibodies-online for kits
- antibodies-online Proteins for ACADM: See all 20
- Search antibodies-online for peptides
- GeneTex ACADM antibody for ACADM
- Search GeneTex for Proteins for ACADM
- ViGene Biosciences adenoviral particle packaged cDNA for ACADM gene
- ViGene Biosciences lentiviral particle packaged cDNA for ACADM gene
- ViGene Biosciences ready-to-package AAV shRNAs for ACADM gene
- Search ViGene Biosciences for ACADM
- Santa Cruz Biotechnology (SCBT) Antibodies for ACADM
- Search Santa Cruz Biotechnology (SCBT) for ACADM siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ACADM
- Horizon Cell Lines for ACADM
- Cyagen custom Knockout/knockin (KOKI) mouse models for ACADM
- VectorBuilder custom plasmid, inducible vectors for ACADM
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ACADM
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for ACADM Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (14) ProtoNet
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- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
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- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
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- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer