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
200375892010A genome-wide perspective of genetic variation in human metabolism.252
125221042003The transcriptional coactivator PGC-1 regulates the expression and activity of the orphan nuclear receptor estrogen-related receptor alpha (ERRalpha).134
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
113492322001Medium-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.41
158323122005Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.35
186604892008Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.26
162915042006Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.21
181886792008Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency.18
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
115172032001Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.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