| Protein Name | acyl-CoA dehydrogenase medium chain |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 34 |
| Gene Symbol | ACADM |
| UniProt | P11310 (ACADM_HUMAN), A0A0S2Z366 (A0A0S2Z366_HUMAN), Q5T4U5 (Q5T4U5_HUMAN), B7Z9I1 (B7Z9I1_HUMAN), B4DJE7 (B4DJE7_HUMAN), Q5HYG7 (Q5HYG7_HUMAN), F6YB23 (F6YB23_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
181
Total Number of Articles : 186 |
Description |
acyl-CoA dehydrogenase medium chain |
| Gene 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] |
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