ACADM (acyl-CoA dehydrogenase medium chain)

2014-11-01  

Identity

HGNC
LOCATION
1p31.1
LOCUSID
ALIAS
ACAD1,MCAD,MCADH
FUSION GENES

Other Information

Locus ID:

NCBI: 34
MIM: 607008
HGNC: 89
Ensembl: ENSG00000117054

Variants:

dbSNP: 34
ClinVar: 34
TCGA: ENSG00000117054
COSMIC: ACADM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117054ENST00000370834Q5T4U5
ENSG00000117054ENST00000370841P11310
ENSG00000117054ENST00000370841A0A0S2Z366
ENSG00000117054ENST00000420607P11310
ENSG00000117054ENST00000525808E9PIX8
ENSG00000117054ENST00000526129E9PRX4
ENSG00000117054ENST00000526196E9PIX8
ENSG00000117054ENST00000528016H0YDT5
ENSG00000117054ENST00000530953E9PLN7
ENSG00000117054ENST00000532509E9PQA8
ENSG00000117054ENST00000534334E9PJM9
ENSG00000117054ENST00000541113B7Z9I1

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Fatty acid degradationKEGGko00071
Valine, leucine and isoleucine degradationKEGGko00280
beta-Alanine metabolismKEGGko00410
Propanoate metabolismKEGGko00640
PPAR signaling pathwayKEGGko03320
Fatty acid degradationKEGGhsa00071
Valine, leucine and isoleucine degradationKEGGhsa00280
beta-Alanine metabolismKEGGhsa00410
Propanoate metabolismKEGGhsa00640
PPAR signaling pathwayKEGGhsa03320
Metabolic pathwaysKEGGhsa01100
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGhsa_M00036
beta-OxidationKEGGhsa_M00087
Malonate semialdehyde pathway, propanoyl-CoA => acetyl-CoAKEGGhsa_M00013
Malonate semialdehyde pathway, propanoyl-CoA => acetyl-CoAKEGGM00013
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGM00036
beta-OxidationKEGGM00087
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Mitochondrial Fatty Acid Beta-OxidationREACTOMER-HSA-77289
mitochondrial fatty acid beta-oxidation of saturated fatty acidsREACTOMER-HSA-77286
Beta oxidation of decanoyl-CoA to octanoyl-CoA-CoAREACTOMER-HSA-77346
Beta oxidation of octanoyl-CoA to hexanoyl-CoAREACTOMER-HSA-77348
mitochondrial fatty acid beta-oxidation of unsaturated fatty acidsREACTOMER-HSA-77288
Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)REACTOMER-HSA-400206
PPARA activates gene expressionREACTOMER-HSA-1989781

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
368407052023Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.1
372577302023Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase.1
373683782023[Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency].0
379501492023Role of PPAR-related genes in chronic heart failure: evidence from large populations.0
368407052023Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.1
372577302023Functional and structural impact of 10 ACADM missense mutations on human medium chain acyl-Coa dehydrogenase.1
373683782023[Analysis of clinical characteristics and ACADM gene variants in four children with Medium chain acyl-CoA dehydrogenase deficiency].0
379501492023Role of PPAR-related genes in chronic heart failure: evidence from large populations.0
335808842021Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?7
339758832021Suppression of ACADM-Mediated Fatty Acid Oxidation Promotes Hepatocellular Carcinoma via Aberrant CAV1/SREBP1 Signaling.39
340396362021Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma.15
347044122021Screening and follow-up results of fatty acid oxidative metabolism disorders in 608 818 newborns in Jining, Shandong province.4
335808842021Genotype and residual enzyme activity in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Are predictions possible?7
339758832021Suppression of ACADM-Mediated Fatty Acid Oxidation Promotes Hepatocellular Carcinoma via Aberrant CAV1/SREBP1 Signaling.39
340396362021Medium-Chain Acyl-CoA Dehydrogenase Protects Mitochondria from Lipid Peroxidation in Glioblastoma.15

Citation

Dessen P

ACADM (acyl-CoA dehydrogenase medium chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60073/acadm-(acyl-coa-dehydrogenase-medium-chain)