PTEN induced kinase 1 (PINK1), a serine/threonine kinase localizes to mitochondria. It comprises an N-terminal mitochondrial targeting sequence, C-terminal kinase domain, and a transmembrane anchor region. The PINK1 gene is mapped to human chromosome 1p36.12.
免疫原
Fusion protein amino acids 112-496 (cytoplasmic C-terminus) of human PINK1. 82% identical to rat and 81% identical to mouse. >30% identity with DMPK.
生物化学的/生理学的作用
PTEN induced kinase 1 (PINK1) participates in mitochondrial component biogenesis. It mediates the translation of mitochondrial respiratory chain subunits encoding nuclear mRNAs. The kinase domain region of PINK1 gene harbors most of the mutations. Mutations in the PINK1 gene are implicated in early-onset Parkinson′s disease (PD). The accumulation of PINK1 in dysfunctional mitochondria marks them for degradation. PINK1 is also implicated in the pathophysiology of cancer, diabetes, and pulmonary fibrosis.
特徴および利点
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物理的形状
PBS pH 7.4, 50% glycerol, 0.1% sodium azide
免責事項
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Mechanisms of ageing and development, 189, 111277-111277 (2020-06-07)
Extensive studies on PINK1, whose mutations are a confirmed cause of Parkinson's disease (PD), have been conducted in animal models or immortalized cell lines. These include initial ground-breaking discoveries on mitophagy, which demonstrated that PINK1 recruits Parkin on depolarized mitochondria
Understanding the function of genes mutated in hereditary forms of Parkinson's disease yields insight into disease etiology and reveals new pathways in cell biology. Although mutations or variants in many genes increase the susceptibility to Parkinson's disease, only a handful
Mutation Analysis of Consanguineous Moroccan Patients with Parkinson's Disease Combining Microarray and Gene Panel.