NP_000007.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
47,020 Da
NCBI Official Full Name
medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a
NCBI Official Synonym Full Names
acyl-CoA dehydrogenase, C-4 to C-12 straight chain
NCBI Protein Information
medium-chain specific acyl-CoA dehydrogenase, mitochondrial
UniProt Protein Name
Medium-chain specific acyl-CoA dehydrogenase, mitochondrial
UniProt Synonym Gene Names
UniProt Entry Name
ACADM_HUMAN
NCBI Summary for ACADM
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]
UniProt Comments for ACADM
ACADM: This enzyme is specific for acyl chain lengths of 4 to 16. Defects in ACADM are the cause of acyl-CoA dehydrogenase medium-chain deficiency (ACADMD). It is an autosomal recessive disease which causes fasting hypoglycemia, hepatic dysfunction, and encephalopathy, often resulting in death in infancy. Belongs to the acyl-CoA dehydrogenase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Amino Acid Metabolism - valine, leucine and isoleucine degradation; Mitochondrial; Other Amino Acids Metabolism - beta-alanine; EC 1.3.8.7; Carbohydrate Metabolism - propanoate; Lipid Metabolism - fatty acid; Oxidoreductase
Chromosomal Location of Human Ortholog: 1p31
Cellular Component: axon; mitochondrial matrix; mitochondrion; nucleus; peroxisome
Molecular Function: acyl-CoA binding; acyl-CoA dehydrogenase activity; electron carrier activity; FAD binding; identical protein binding
Biological Process: carnitine biosynthetic process; carnitine metabolic process, CoA-linked; fatty acid beta-oxidation; fatty acid beta-oxidation using acyl-CoA dehydrogenase; lipid homeostasis; medium-chain fatty acid catabolic process; medium-chain fatty acid metabolic process
Disease: Acyl-coa Dehydrogenase, Medium-chain, Deficiency Of
Research Articles on ACADM
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Products associated with anti-ACADM antibody
Pathways associated with anti-ACADM antibody
Diseases associated with anti-ACADM antibody
Organs/Tissues associated with anti-ACADM antibody
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