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Aliases for ACADM Gene

Aliases for ACADM Gene

  • Acyl-CoA Dehydrogenase Medium Chain 2 3 5
  • Acyl-Coenzyme A Dehydrogenase, C-4 To C-12 Straight Chain 2 3
  • Medium-Chain Acyl-CoA Dehydrogenase 2 3
  • MCAD 3 4
  • Medium-Chain Specific Acyl-CoA Dehydrogenase, Mitochondrial 3
  • Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain 3
  • Testicular Tissue Protein Li 7 3
  • EC 1.3.8.7 4
  • ACAD1 3
  • MCADH 3

External Ids for ACADM Gene

Previous GeneCards Identifiers for ACADM Gene

  • GC01P076309
  • GC01P075125
  • GC01P075606
  • GC01P075612
  • GC01P075902
  • GC01P076190
  • GC01P074319

Summaries for ACADM Gene

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 Medium 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 PPAR Alpha Pathway and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (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).

Additional gene information for ACADM Gene

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

GeneHancer (GH) Regulatory Elements for ACADM Gene

Promoters and enhancers for ACADM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J075722 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 668.9 +0.8 765 6 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ACADM ENSG00000178193 SLC44A5 RABGGTB SNORD45A SNORD45C MSH4 DLSTP1 PIR54256
GH01J075784 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 7.5 +63.6 63597 7.7 PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B RABGGTB GC01P075797 GC01P075799 GC01P075800 SNORD45A SNORD45B SNORD45C MSH4 DLSTP1 ACADM
GH01J075671 Enhancer 0.9 ENCODE 17.7 -51.5 -51503 1.8 ATF1 FOXA2 ARNT TCF12 CBX5 ARID2 FOS ATF7 ZNF592 MEF2D GC01P075675 PIR63059 ACADM DLSTP1 MSH4 LOC100421536 SLC44A5
GH01J075765 Enhancer 0.7 Ensembl ENCODE 9.8 +41.5 41544 1.6 JUND POLR2A JUN FOS MSH4 ACADM RABGGTB DLSTP1
GH01J076040 Enhancer 0.6 ENCODE 5.3 +316.5 316501 1.6 PKNOX1 ZNF362 NRF1 ZNF384 ZIC2 OSR2 ZFP69B ZNF335 ZNF610 ZNF692 ENSG00000230027 ST6GALNAC3 LOC101927342 ACADM MSH4 LOC105378806
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACADM on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACADM gene promoter:

Genomic Locations for ACADM Gene

Genomic Locations for ACADM Gene
chr1:75,724,347-75,787,575
(GRCh38/hg38)
Size:
63,229 bases
Orientation:
Plus strand
chr1:76,190,036-76,253,260
(GRCh37/hg19)

Genomic View for ACADM Gene

Genes around ACADM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACADM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACADM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • 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

    Alternative splice isoforms for ACADM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACADM Gene

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 posLast=395395
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ACADM Gene

Domains & Families for ACADM Gene

Gene Families for ACADM Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

P11310

UniProtKB/Swiss-Prot:

ACADM_HUMAN :
  • Belongs to the acyl-CoA dehydrogenase family.
Family:
  • Belongs to the acyl-CoA dehydrogenase family.
genes like me logo Genes that share domains with ACADM: view

Function for ACADM Gene

Molecular function for ACADM Gene

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).
UniProtKB/Swiss-Prot CatalyticActivity:
A medium-chain acyl-CoA + electron-transfer flavoprotein = a medium-chain trans-2,3-dehydroacyl-CoA + reduced electron-transfer flavoprotein.
GENATLAS Biochemistry:
acyl-CoA dehydrogenase,medium chain (C6-C12),mitochondrial,fatty acid beta-oxidation

Enzyme Numbers (IUBMB) for ACADM Gene

Phenotypes From GWAS Catalog for ACADM Gene

Gene Ontology (GO) - Molecular Function for ACADM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003995 acyl-CoA dehydrogenase activity TAS,IEA --
GO:0016491 oxidoreductase activity IEA,IBA --
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 --
genes like me logo Genes that share ontologies with ACADM: view
genes like me logo Genes that share phenotypes with ACADM: view

Human Phenotype Ontology for ACADM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ACADM Gene

MGI Knock Outs for ACADM:

Animal Model Products

CRISPR Products

miRNA for ACADM Gene

miRTarBase miRNAs that target ACADM

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACADM

Clone 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACADM gene
Compartment Confidence
extracellular 5
mitochondrion 5
nucleus 5
peroxisome 2
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ACADM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005739 mitochondrion IDA --
GO:0005759 mitochondrial matrix IDA,TAS --
GO:0016607 nuclear speck IDA --
GO:0030424 axon IDA 21237683
genes like me logo Genes that share ontologies with ACADM: view

Pathways & Interactions for ACADM Gene

genes like me logo Genes that share pathways with ACADM: view

UniProtKB/Swiss-Prot P11310-ACADM_HUMAN

  • Pathway: Lipid metabolism; mitochondrial fatty acid beta-oxidation.

Gene Ontology (GO) - Biological Process 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 --
genes like me logo Genes that share ontologies with ACADM: view

No data available for SIGNOR curated interactions for ACADM Gene

Drugs & Compounds for ACADM Gene

(21) Drugs for ACADM Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
3-Thiaoctanoyl-Coenzyme A Experimental Pharma Target 0
Octanoyl-Coenzyme A Experimental Pharma Target 0
Hexanoyl-CoA Experimental Pharma 0
Methacrylyl-CoA Experimental Pharma 0

(65) Additional Compounds for ACADM Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
octanoyl-coa
  • Capryloyl-CoA
  • Capryloyl-coenzyme A
  • Octanoyl-coenzyme A
1264-52-4
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
genes like me logo Genes that share compounds with ACADM: view

Transcripts for ACADM Gene

Unigene Clusters for ACADM Gene

Acyl-CoA dehydrogenase, C-4 to C-12 straight chain:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACADM

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACADM Gene

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: - -

Relevant External Links for ACADM Gene

GeneLoc Exon Structure for
ACADM
ECgene alternative splicing isoforms for
ACADM

Expression for ACADM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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).

Protein differential expression in normal tissues from HIPED for ACADM Gene

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, MaxQB, and MOPED for ACADM Gene



Protein tissue co-expression partners for ACADM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ACADM Gene:

ACADM

SOURCE GeneReport for Unigene cluster for ACADM Gene:

Hs.445040

Evidence on tissue expression from TISSUES for ACADM Gene

  • Nervous system(4.8)
  • Heart(4.7)
  • Liver(4.6)
  • Intestine(4.4)
  • Kidney(3.6)
  • Muscle(2.7)

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
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
Abdomen:
  • adrenal gland
  • liver
  • stomach
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with ACADM: view

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.

Orthologs for ACADM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACADM 34 33
  • 99.6 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACADM 34 33
  • 90.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACADM 34 33
  • 90.63 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACADM 34
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acadm 16 34 33
  • 82.5 (n)
rat
(Rattus norvegicus)
Mammalia Acadm 33
  • 81.79 (n)
oppossum
(Monodelphis domestica)
Mammalia ACADM 34
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves GNG11 34
  • 27 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia ACADM 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acadm 33
  • 75.83 (n)
Str.7172 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.23817 33
zebrafish
(Danio rerio)
Actinopterygii acadm 34 33
  • 75.3 (n)
OneToOne
Dr.7343 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9778 33
fruit fly
(Drosophila melanogaster)
Insecta CG12262 34 35 33
  • 61.63 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005662 33
  • 59.74 (n)
worm
(Caenorhabditis elegans)
Secernentea T08G2.3 35
  • 64 (a)
T25G12.5 35
  • 63 (a)
acdh-8 34 33
  • 62.31 (n)
OneToMany
K05F1.3 35
  • 61 (a)
acdh-7 34
  • 59 (a)
OneToMany
acdh-10 34
  • 59 (a)
OneToMany
C02D5.1 35
  • 29 (a)
C37A2.3 35
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 61 (a)
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)

Evolution for ACADM Gene

ENSEMBL:
Gene Tree for ACADM (if available)
TreeFam:
Gene Tree for ACADM (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACADM: view image

Paralogs for ACADM Gene

Paralogs for ACADM Gene

(9) SIMAP similar genes for ACADM Gene using alignment to 10 proteins:

  • ACADM_HUMAN
  • B4DJE7_HUMAN
  • B7Z9I1_HUMAN
  • E9PIX8_HUMAN
  • E9PJM9_HUMAN
  • E9PLN7_HUMAN
  • E9PQA8_HUMAN
  • E9PRX4_HUMAN
  • H0YDT5_HUMAN
  • Q5T4U5_HUMAN
genes like me logo Genes that share paralogs with ACADM: view

Variants for ACADM Gene

Sequence variations from dbSNP and Humsavar for ACADM Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1052086885 uncertain-significance, Medium-chain acyl-coenzyme A dehydrogenase deficiency 75,724,484(+) A/G 5_prime_UTR_variant
rs1057516278 likely-pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency 75,761,290(+) G/GG coding_sequence_variant, frameshift
rs1057516463 likely-pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency 75,761,221(+) C/ coding_sequence_variant, frameshift
rs1057516480 likely-pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency 75,732,860(+) T/ 5_prime_UTR_variant, coding_sequence_variant, frameshift
rs1057516485 likely-pathogenic, Medium-chain acyl-coenzyme A dehydrogenase deficiency 75,761,135(+) C/A/T coding_sequence_variant, missense_variant, stop_gained

Structural Variations from Database of Genomic Variants (DGV) for ACADM Gene

Variant ID Type Subtype PubMed ID
esv3577968 CNV loss 25503493
nsv519329 CNV gain 19592680
nsv830281 CNV loss 17160897
nsv946000 CNV duplication 23825009

Variation tolerance for ACADM Gene

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)

Additional Variant Information for ACADM Gene

Human Gene Mutation Database (HGMD)
ACADM
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACADM

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACADM Gene

Disorders for ACADM Gene

MalaCards: The human disease database

(16) MalaCards diseases for ACADM Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

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

Additional Disease Information for ACADM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ACADM: view

Publications for ACADM Gene

  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. (PMID: 11349232) Andresen BS … Gregersen N (American journal of human genetics 2001) 3 4 22 44 58
  2. 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 44 58
  3. A985G mutation incidence in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in Brazil. (PMID: 19551636) Ferreira AC … Godard AL (Genetics and molecular research : GMR 2009) 3 22 44 58
  4. Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. (PMID: 16291504) Waddell L … Wilcken B (Molecular genetics and metabolism 2006) 3 22 44 58
  5. Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. (PMID: 15832312) Maier EM … Roscher AA (Human mutation 2005) 3 22 44 58

Products for ACADM Gene

Sources for ACADM Gene

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