USP30
Description
The USP30 (ubiquitin specific peptidase 30) is a protein-coding gene located on chromosome 12.
USP30, also known as Deubiquitinating enzyme 30, is a deubiquitinase anchored to the mitochondrial outer membrane. It acts as a key inhibitor of mitophagy, a process that removes damaged mitochondria, by counteracting the action of parkin (PRKN). USP30 removes ubiquitin chains attached by parkin to target proteins, such as RHOT1/MIRO1 and TOMM20, preventing the initiation of mitophagy. USP30 preferentially cleaves 'Lys-6'- and 'Lys-11'-linked polyubiquitin chains, essential for mitophagic signaling, but is inefficient in cleaving polyubiquitin phosphorylated at 'Ser-65'. In addition, USP30 negatively regulates mitochondrial fusion by removing ubiquitin from MFN1 and MFN2 proteins. This activity is inferred from similar proteins.
USP30 is also known as -.
Associated Diseases
- low grade glioma
- breast cancer
- cancer
- diabetes mellitus, permanent neonatal 4
- benign adult familial myoclonic epilepsy
- permanent neonatal diabetes mellitus 1
- thrombocytopenia 7
- thrombocytopenia 4
- macrothrombocytopenia, isolated, 2, autosomal dominant
- beta-thalassemia-X-linked thrombocytopenia syndrome
- platelet-type bleeding disorder 15
