| Entry |
|
| Name |
|
| Type |
Loss of function
|
| Gene |
HADHA trifunctional enzyme subunit alpha, mitochondrial precursor [KO: K07515]
|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
| Variation |
|
| Network |
nt06020 beta-Oxidation in mitochondria |
| Disease |
|
| Reference |
|
| Authors |
Baskin B, Geraghty M, Ray PN |
| Title |
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. |
| Journal |
|
| LinkDB |
|