组成
PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
背景
This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [provided by RefSeq, Jul 2008],
功能
Catalytic activity:ATP + a protein = ADP + a phosphoprotein.,cofactor:Magnesium.,Disease:Defects in PINK1 are the cause of autosomal recessive early-onset Parkinson disease 6 (PARK6) [MIM:605909, 168600]. Parkinson disease (PD) is a complex, multifactorial disorder that typically manifests after the age of 50 years, although early-onset cases (before 50 years) are known. PD generally arises as a sporadic condition but is occasionally inherited as a simple mendelian trait. Although sporadic and familial PD are very similar, inherited forms of the disease usually begin at earlier ages and are associated with atypical clinical features. PD is characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.,Function:Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating mitochondrial proteins.,PTM:Autophosphorylated.,similarity:Belongs to the protein kinase superfamily. Ser/Thr protein kinase family.,similarity:Contains 1 protein kinase domain.,tissue specificity: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.,
