| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
|
| loss of function
|
functional defect of VCP in DNA double-stranded break repair is critical for the pathology of neurons in which VCP is located dominantly in the nucleus  | | constitutional
|
|
|
| loss of function
| |
causes profound mitochondrial uncoupling leading to decreased mitochondrial membrane potential and increased mitochondrial oxygen consumption, resulting in a significant reduction of cellular ATP production | |
