ACADM - acyl-CoA dehydrogenase medium chain Gene
Also Known as MCAD; ACAD1; MCADH
Species: Homo sapiens
About ACADM
This gene has 61 transcripts (splice variants), 203 orthologues, 14 paralogues and is associated with 3 phenotypes. Ubiquitous expression in kidney (RPKM 85.4), heart (RPKM 68.4) and 25 other tissues.
Summary
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]
ACADM Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_000016.6 | NP_000007.1 | medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform a precursor |
| NM_001127328.3 | NP_001120800.1 | medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform b precursor |
| NM_001286042.2 | NP_001272971.1 | medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform c |
| NM_001286043.2 | NP_001272972.1 | medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform d precursor |
| NM_001286044.2 | NP_001272973.1 | medium-chain specific acyl-CoA dehydrogenase, mitochondrial isoform e |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables acyl-CoA dehydrogenase activity |
IDA
IDA: Inferred from direct assay
|
19224950 | GOA |
| enables acyl-CoA dehydrogenase activity |
IMP
IMP: Inferred from mutant phenotype
|
2393404 | GOA |
| enables identical protein binding |
IDA
IDA: Inferred from direct assay
|
19224950 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
37257730 | GOA |
| enables medium-chain fatty acyl-CoA dehydrogenase activity |
IDA
IDA: Inferred from direct assay
|
1902818 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in carnitine biosynthetic process |
IMP
IMP: Inferred from mutant phenotype
|
16972171 | GOA |
| involved in carnitine metabolic process, CoA-linked |
IMP
IMP: Inferred from mutant phenotype
|
16972171 | GOA |
| involved in fatty acid beta-oxidation |
IMP
IMP: Inferred from mutant phenotype
|
2393404 | GOA |
| involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase |
IDA
IDA: Inferred from direct assay
|
1902818 | GOA |
| involved in fatty acid beta-oxidation using acyl-CoA dehydrogenase |
IMP
IMP: Inferred from mutant phenotype
|
16972171 | GOA |
| involved in medium-chain fatty acid catabolic process |
IDA
IDA: Inferred from direct assay
|
1970566 | GOA |
| involved in medium-chain fatty acid metabolic process |
IDA
IDA: Inferred from direct assay
|
1970566 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in axon |
IDA
IDA: Inferred from direct assay
|
21237683 | GOA |
| located in mitochondrial matrix |
IDA
IDA: Inferred from direct assay
|
16020546 | GOA |
| located in mitochondrial membrane |
IDA
IDA: Inferred from direct assay
|
16020546 | GOA |
ACADM Protein Structure
Acyl-CoA_dh_N: Acyl-CoA dehydrogenase, N-terminal domain (42 - 151)
Acyl-CoA_dh_M: Acyl-CoA dehydrogenase, middle domain (157 - 208)
Acyl-CoA_dh_1: Acyl-CoA dehydrogenase, C-terminal domain (267 - 414)
- 0
- 100
- 200
- 300
- 400
- 421 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
medium-chain specific acyl-CoA dehydrogenase, mitochondrial |
|
Recombinant ACADM Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7451 | MCAD Protein, Human (His) | P11310 (K26-N421) | ≥ 90%, as determined by reducing SDS-PAGE. |
ACADM Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P82222 | ACADM Antibody (YA1967) | WB, ICC/IF | Human, Mouse, Rat |
| HY-P84059 | ACADM Antibody (YA3756) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
| HY-P84059A | ACADM Antibody (YA3756)(PBS only) | WB, IHC-P, ICC/IF, FC, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
|
| Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency |
|
|
| Lipid Metabolism Disorder |
|
|
| Reye Syndrome |
|
|
| Acyl-Coa Dehydrogenase Deficiency |
|
|
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
|
| Hypoglycemia |
|
|
| Sudden Infant Death Syndrome |
|
|
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
|
| Encephalopathy |
|
|
| Organic Acidemia |
|
|
| Multiple Carboxylase Deficiency |
|
|
| Galactosemia I |
|
|
| Phenylketonuria |
|
|
| Methylmalonic Acidemia |
|
|
| Carnitine Deficiency, Systemic Primary |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
|
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
|
| Abdominal Obesity-Metabolic Syndrome 1 |
|
|
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
|
| Carnitine-Acylcarnitine Translocase Deficiency |
|
|
| Total Anomalous Pulmonary Venous Return 1 |
|
|
| Carnitine Palmitoyltransferase I Deficiency |
|
|
| Biotinidase Deficiency |
|
|
| Lipoid Congenital Adrenal Hyperplasia |
|
|
| Nuclear Type Mitochondrial Complex I Deficiency |
|
|
| Congenital Hypothyroidism |
|
|
| Isovaleric Acidemia |
|
|
| Mitochondrial Trifunctional Protein Deficiency |
|
|
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
|
| Alpha-Methylacetoacetic Aciduria |
|
|
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
|
| Maple Syrup Urine Disease |
|
|
| Citrullinemia, Classic |
|
|
| Glutaric Acidemia I |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | ACADM | RGD | RGD:2012 |
| Canis familiaris | ACADM | VGNC | VGNC:37494 |
| Macaca mulatta | ACADM | VGNC | VGNC:69595 |
| Bos taurus | ACADM | VGNC | VGNC:25524 |
| Mus musculus | ACADM | MGD | MGI:87867 |
| Felis catus | ACADM | VGNC | VGNC:68816 |
| Others | ACADM | NCBI |