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Aliases & Descriptions for ACADM
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc
, and/or 7 Ensembl ,
8 miRBase )About This Section
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Aliases ACAD1 1 , 2 EC 1.3.99.3 3 FLJ18227 2 FLJ93013 2 FLJ99884 2 MCAD 1 , 2 , 3 , 5 MCADH 1 , 2 OTTHUMP00000011345 2
Descriptions acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain 2 medium-chain acyl-CoA dehydrogenase 2 medium-chain specific acyl-CoA dehydrogenase 2
Search outside databases for aliases for ACADM genePrevious GC identifers: GC01P076309 GC01P075125 GC01P075606 GC01P075612
Summaries for ACADM (According to Entrez Gene ,
Wikipedia's
Gene Wiki ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
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EntrezGene summary for ACADM : This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme Adehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acidbeta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency,a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, whichcan result in infantile death. Alternatively spliced transcript variants encoding differentisoforms have been found for this gene. [provided by RefSeq] UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310 Function : This enzyme is specific for acyl chain lengths of 4 to 16
Genomic Location for ACADM
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 36) ,
and/or miRBase ,
Genomic Views according to
UCSC and
Ensembl ,
Transcription factor binding sites according to
SABiosciences )About This Section
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Genomic View : UCSC Golden Path with GeneCards custom track Transcription factor binding sites upstream to the ACADM gene 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) GeneLoc gene densities for chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01P075902:
(about GC identifiers )
Start:
75,962,870 bp from pter
End:
76,001,771 bp from pter
Size:
38,902 bases
Orientation:
plus strand
RefSeq DNA sequence: NC_000001.9 NT_032977.8 Proteins for ACADM
(According to
1 UniProtKB ,
and/or Ensembl ,
Phosphorylation sites according to 2 Phosphosite ,
RefSeq according to NCBI ,
PDB rendering according to OCA and/or Proteopedia ,
Recombinant Proteins
from Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Enzo Life Sciences ,
Abnova ,
OriGene and/or,
Abcam ,
Biochemical Assays by
Invitrogen ,
Millipore ,
R&D Systems ,
Cell Signaling Technology , and/or
Enzo Life Sciences ,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene ,
Antibodies by Invitrogen ,
Millipore ,
Sigma-Aldrich ,
R&D Systems ,
Cell Signaling Technology ,
Abcam ,
Abnova , and/or
Novus Biologicals )
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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
Subcellular location : Mitochondrion matrix
Miscellaneous : A number of straight-chain acyl-CoA dehydrogenases of different substratespecificities are present in mammalian tissues
Miscellaneous : Utilizes the electron transfer flavoprotein (ETF) as electron acceptor thattransfers the electrons to the main mitochondrial respiratory chain via ETF-ubiquinoneoxidoreductase (ETF dehydrogenase)
PDB structures from and Proteopedia : 1EGC (3D)
 1EGD (3D)
 1EGE (3D)
 1T9G (3D)
 2A1T (3D)
 
Secondary accessions : Q9NYF1
REFSEQ proteins (2 alternative transcripts):
NP_000007.1 NP_001120800.1 ENSEMBL proteins: ENSP00000359871 ENSP00000359878 Human Recombinant Proteins               OriGene Purified Recombinant Human Protein: ACADM 2 Gene Ontology (GO) cellular component terms (links to tree view) :
About this table Antibodies for ACADM: Assays for ACADM:
Protein
Domains/ Families for ACADM(According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
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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
Gene Function for ACADM
(According to MGI Jun 06 2009, UniProtKB ,
IUBMB ,and/or Genatlas ,
shRNA from
OriGene ,
Sigma-Aldrich , RNAi from
Sigma-Aldrich ,
RNAi Products ,
Clones , and
Q-PCR Products
from Invitrogen ,
Millipore ,
OriGene , and/or
Abnova ,
siRNAs from
Applied Biosystems ,
SYBR primers from OriGene ,
Cell-based Assays from Millipore ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_000016 Applied Biosystems Silencer ® siRNAs for ACADM Sigma-Aldrich siRNA and siRNA Panels for ACADM Sigma-Aldrich shRNA for ACADM Explore Sigma-Aldrich super-pooled esiRNAs                OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000016                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000016                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_000016  Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_001127328 UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310 Function : This enzyme is specific for acyl chain lengths of 4 to 16Catalytic activity : Acyl-CoA + acceptor = 2,3-dehydroacyl-CoA + reduced acceptorEnzyme Number (IUBMB): EC 1.3.99.3
Genatlas biochemistry entry for ACADM :acyl-CoA dehydrogenase,medium chain (C6-C12),mitochondrial,fatty acid beta-oxidation
5 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Acadm) :3 Gene Ontology (GO) molecular function terms (links to tree view) :
About this table
Pathways & Interactions for ACADM
(Pathways according to Invitrogen
(maps by GeneGo ),
Millipore ,
Cell Signaling Technology ,
Sigma-Aldrich ,
KEGG
and/or UniProtKB ,
Sets of similar genes according to GeneDecks ,
Proteins Network according to
SABiosciences ,
Interactions according to 1 UniProtKB ,
2 MINT , and/or
3 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene .)
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5/6 Sigma-Aldrich "Your Favorite Gene" Pathways for ACADM (Your Favorite Gene powered by Ingenuity) (see all 6
) UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310 Pathway : Lipid metabolism; mitochondrial fatty acid beta-oxidation
Gene Network CentralTM Interacting Genes and Proteins Network for ACADM 5/37 Interacting proteins for ACADM (ENSP00000359871 3 ) via UniProtKB, MINT, and/or STRING (see all 37
)About this table 5/12 Gene Ontology (GO) biological process terms (links to tree view) (see all 12
):
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Drugs & Compounds for ACADM (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
Sigma-Aldrich , Tocris Bioscience , and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB )
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Browse Tocris compounds for ACADM 10/28 Novoseek chemical compound relationships for ACADM gene (see all 28
)
Compound
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
acyl-coa
97.32
323
2345678 (3), 1363805 (3), 8102510 (2), 7905878 (2) (see all 99 )
cis-4-decenoic acid
95.40
4
8154855 (1), 8056418 (1), 7586519 (1), 17987455 (1)
octanoylcarnitine
95.00
17
8496747 (3), 9365395 (3), 1635814 (2), 8650121 (1) (see all 11 )
3-phenylpropionylglycine
94.74
8
1541011 (3), 2345678 (1), 8419594 (1), 8154855 (1) (see all 5 )
suberylglycine
92.89
1
18203188 (1)
hexanoylglycine
87.11
2
18203188 (1), 17186412 (1)
methylenecyclopropyl acetyl-coa
86.73
7
2331485 (2)
hexanoylcarnitine
86.73
2
1635814 (2)
iacoa
85.36
1
8218225 (1)
decanoylcarnitine
83.46
2
8650121 (1)
About this table
Transcripts for ACADM(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
non coding RNAs according to
RNAdb ,
ESTs according to GeneTide ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,
RNAi Products from Invitrogen ,
Millipore , and/or
Abnova ,
siRNAs from Applied Biosystems ,
Sigma-Aldrich ,
shRNA from
Sigma-Aldrich ,
OriGene ,
Tagged/untagged cDNA clones from
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               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2 ): NM_000016 Sigma-Aldrich siRNA and siRNA Panels for ACADM Sigma-Aldrich shRNA for ACADM Explore Sigma-Aldrich super-pooled esiRNAs
Applied Biosystems Silencer ® siRNAs: NM_000016 NM_001127328
REFSEQ mRNAs for ACADM gene (2 alternative transcripts): NM_000016.4 NM_001127328.1
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000016 NM_001127328
               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2 ): NM_000016                                  Myc/DDK tagged cDNA clones in CMV expression vector (see all 2 ): NM_000016                                  untagged cDNA clones in CMV expression vector (see all 2 ): NM_000016  
Additional cDNA sequence: AF251043.1 AK296045.1 AK301005.1 AK301039.1 AK301717.1 AK311022.1 AK312629.1 AK315946.1 BC005377.1 BX647734.1 CR596485.1 CR620592.1 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.95189109 DT.100684055 DT.100842964 DT.102830966 DT.121438492 DT.121438522 DT.446425 DT.95189108 DT.95189115 DT.97859460
24/271 AceView cDNA sequences (see all 271
):BI712079 AU076842 AI078274 AA278487 BQ277570 BG394024 M16827 BU742862 CR620592 BM541774 AF251043 BM972772 BP376935 BG698034 BC005377 BM711350 BP340754 BM465719 BU742405 F07266 T23877 NM_000016 F03536 BU145415
highest scoring ESTs for ACADM :AA126940 AA197245 AA505399 AA523261 AA651932 AA683551 AA766846 AA815041 AA856613 AI078274
Unigene Cluster for ACADM: Acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain Hs.445040 [show with all ESTs ] Unigene Representative Sequence: NM_001127328 GeneLoc Exon Structure 5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ACADM (see all 8
) 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 :                                                
About this scheme ECgene alternative splicing isoforms for ACADM 2 Ensembl transcripts including schematic representations : ENST00000370834
ENST00000370841
Expression for ACADM
(Experimental results according to
1 GeneNote
and GNF BioGPS ,
probe sets-to-genes annotations according to
2 GeneAnnot ,
3 GeneTide ,
Sets of similar genes according to GeneDecks ,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP ,
plus additional links to
SOURCE , and/or
GNF
BioGPS , and/or
EXPOLDB , and/or
UniProtKB ,
Expression Assays from
Applied Biosystems
)
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ACADM expression in normal and diseased human tissues Applied Biosystems TaqMan ® Gene Expression Assays for ACADM 1 / 2 / 3
3 probe-sets matching ACADM gene Data from
(Publications) and GNF BioGPS About these images About these images CGAP SAGE TAG: GGCCAGCGATSOURCE GeneReport for Unigene cluster: Hs.445040 Expression variation in blood from EXPOLDB for ACADM
Orthologs for ACADM
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
and/or
5 MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase ,
Gene Trees according to Ensembl )
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Orthologs for ACADM gene from 5/12 species (see all 12
)
About this table Species with no ortholog for ACADM ENSEMBL Gene Tree for ACADM Paralogs for ACADM (Paralogs according to 1 HomoloGene and 2 Ensembl , Pseudogenes according to 3 Pseudogene.org )About This Section
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Paralogs for ACADM gene ACADS 2 ACAD8 2
SNPs/Variants for ACADM (According to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE , and
UniProtKB ,
Linkage Disequilibrium by HapMap ,
Genotyping Reagents from
Applied Biosystems )
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HapMap Linkage Disequilibrium images for ACADM (up to first 250kb)
Disorders & Mutations for ACADM
(in which this Gene is Involved, According to
OMIM, UniProtKB ,
Novoseek , PharmGKB ,
Genatlas , GeneTests ,
Blood group antigen gene mutations by BGMUT ,
HGMD, GAD ,
HuGE Navigator ,
BCGD ,
and/or TGDB .)
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OMIM: 607008 disorders : 201450 UniProtKB/Swiss-Prot: ACADM_HUMAN, P11310
Defects in ACADM are the cause of medium-chain acyl-CoA dehydrogenase deficiency (MCADdeficiency) [MIM:201450]. It is an autosomal recessive disease which causes fasting hypoglycemia,hepatic dysfunction, and encephalopathy, often resulting in death in infancy. The diseasefrequency is one in 13000
10/28 Novoseek disease relationships for ACADM gene (see all 28
)
Disease
Score
Articles
PubMed IDs for Articles with Shared Sentences (# sentences)
mcad deficiency
99.54
515
9797589 (9), 18188679 (8), 9365395 (7), 8488845 (7) (see all 99 )
scad deficiency
88.04
3
11524729 (1), 18836889 (1)
reye-like syndrome
77.26
3
11763681 (1), 1601002 (1), 1775402 (1)
reye syndrome
74.18
6
12892042 (2), 2279505 (1), 8840534 (1), 2387217 (1) (see all 5 )
sudden infant death syndrome
72.60
21
15466077 (3), 16617370 (1), 8840534 (1), 2387217 (1) (see all 15 )
metabolic disorder
71.71
24
8033926 (2), 10913960 (1), 12487544 (1), 1570195 (1) (see all 22 )
aciduria organic
69.89
1
2208722 (1)
phenylketonurias
65.26
6
16984060 (1), 19191006 (1), 11392180 (1), 15559414 (1) (see all 5 )
multiple carboxylase deficiency
63.07
1
11400759 (1)
hypoglycemia
62.94
13
2387217 (2), 7929823 (2), 9498103 (1), 1594327 (1) (see all 11 )
About this table Genatlas disease: ACADM dicarboxylic aciduria,non ketotic hypoglycemia,Reye-like syndrome,sudden infant death syndrome GeneTests: ACADM Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency Human Gene Mutation Database : ACADM Genetic Association Database: ACADM Human Genome Epidemiology Navigator: ACADM (12 documents)
Medical News for ACADM (Possibly Related Articles in
Doctor's Guide )
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--
Publications for ACADM (in
PubMed .
Associations of this gene to articles via
1 Novoseek ,
2 HGNC ,
3 Entrez Gene ,
4 UniProtKB/Swiss-Prot ,
5 UniProtKB/TrEMBL ,
6 GAD , and/or
7 PharmGKB )
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10/250 PubMed articles for ACADM gene (see all 250
): 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, 3, 4, 6 Andresen B.S.... Gregersen N. (2001) Nucleotide sequence of medium-chain acyl-CoA dehydrogenase mRNA and its expression in enzyme-deficient human tissue. (PubMed id 3035565) 2, 3, 4 Kelly D.P....Strauss A.W. (1987) 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, 3, 4 Gregersen N.... Ghisla S. (1991) Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene. (PubMed id 1731887) 1, 3, 4 Zhang Z.F....Strauss A.W. (1992) 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, 3, 4 Andresen B.S.... Gregersen N. (1997) A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. (PubMed id 7929823) 1, 3, 4 Brackett J.C.... Strauss A.W. (1994) Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency. (PubMed id 2251268) 1, 3, 4 Kelly D.P.... Strauss A.W. (1990) Molecular and functional characterization of mild MCAD deficiency. (PubMed id 11409868) 1, 3, 4 Zschocke J....Mayatepek E. (2001) Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene. (PubMed id 8198141) 1, 3, 4 Andresen B.S.... Gregersen N. (1994) Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. (PubMed id 1363805) 1, 3, 4 Tanaka K....Chen Y.-T. (1992)
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Genome Databases showing ACADM
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
and/or
H-InvDB )
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Other Databases showing ACADM
(According to HUGE )
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Specialized Databases showing ACADM (According to ATLAS , HORDE , IMGT , MTDB, LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
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GeneReviews http://www.genetests.org/query?gene=ACADM
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-- Services for ACADM (Reagents available from Applied Biosystems , Antibodies and assays by Cell
Signaling Technology , Abcam , Novus Biologicals ,Sigma-Aldrich , R&D Systems , Millipore , Abnova , and/or Invitrogen , Clones available from OriGene ,and/or Invitrogen , Drugs and/or compounds by Sigma-Aldrich , Enzo Life Sciences , and/or Tocris Bioscience )About This Section
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Products for ACADM:
Search Tocris compounds for ACADM
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GeneCards Homepage - Last full update: 1 Jul 2009
Incremental update: 13 Oct 2009