Serine/threonine protein kinase PINK1 mitochondrial
Serine/threonine-protein kinase PINK1
機能Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy). It is necessary for PARK2 recruitement to dysfunctional mitochondria to initiate their degradation.
組織特異性Highly expressed in heart, skeletal muscle and testis, and at lower levels in brain, placenta, liver, kidney, pancreas, prostate, ovary and small intestine. Present in the embryonic testis from an early stage of development.
関連疾患Defects in PINK1 are the cause of Parkinson disease type 6 (PARK6) [MIM:605909]. A neurodegenerative disorder characterized by parkinsonian signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifest additional symptoms including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptoms show diurnal fluctuation and can improve after sleep.
配列類似性Belongs to the protein kinase superfamily. Ser/Thr protein kinase family. Contains 1 protein kinase domain.