PGAM5
Description
The PGAM5 (PGAM family member 5, mitochondrial serine/threonine protein phosphatase) is a protein-coding gene located on chromosome 12.
PGAM5, also known as mitochondrial Serine/threonine-protein phosphatase PGAM5, is related to the phosphoglycerate mutase family. In humans, it is encoded by the PGAM5 gene on chromosome 12.
PGAM5 is a mitochondrial serine/threonine phosphatase that dephosphorylates various substrates, playing a role in cellular senescence, mitophagy, and other processes. It regulates cellular senescence by modulating mitochondrial dynamics, participating in mitochondrial fission through dephosphorylation of DNM1L/DRP1. It also dephosphorylates MFN2, protecting it from degradation and promoting mitochondrial network formation. Independently of PARKIN, PGAM5 regulates mitophagy by interacting with and dephosphorylating FUNDC1, which interacts with LC3. PGAM5 forms a complex with KEAP1 and NRF2, regulating the anti-oxidative response. Additionally, it acts as a RIPK3 target, recruiting the RIPK1-RIPK3-MLKL necrosis complex to mitochondria, regulating necroptosis.
PGAM5 is also known as BXLBV68.
Associated Diseases
- microphthalmia with limb anomalies
- autosomal dominant striatal neurodegeneration type 1
- dehydrated hereditary stomatocytosis
- spinocerebellar ataxia type 12
- atypical juvenile parkinsonism
