The official name of this gene is PTEN induced putative kinase 1,Gene provides informations to produce serine/threonine protein kinase that localizes to mitochondria,it is function of PTEN induced putative kinase 1 is not fully understood. It appears to help protect mitochondria from malfunctioning during periods of cellular stress, such as unusually high energy demands,Researchers believe that two specialized regions of PTEN induced putative kinase 1 are essential for the protein to function properly. One region, called the mitochondrial-targeting motif, serves as a delivery address. The protein is produced outside the mitochondria, and this motif helps ensure that it is delivered to the mitochondria. Another region, called the kinase domain, probably carries out the protein's protective function.
Location :PINK1 gene is present chromosome 1 and coded from 20,832,534 to 20,850,590 region ,the cytogenetic location is 1p36 ,The gene size is 18057 bp with 8 exons.
Disease:
Researchers have identified more than 20 PINK1 mutations that cause early-onset Parkinson disease. Some mutations change one of the protein building blocks (amino acids) used to make PTEN induced putative kinase 1. Other mutations lead to an abnormally small version of the protein. Many PINK1 mutations alter or eliminate the kinase domain, leading to a loss of protein function. At least one mutation affects the mitochondrial-targeting motif and may disrupt delivery of the protein to mitochondria. With reduced or absent PTEN induced putative kinase 1 activity, mitochondria may malfunction, particularly when cells are stressed. Cells can die if power is not provided for essential activities. It is unclear how PINK1 mutations cause the selective death of nerve cells that characterizes Parkinson disease.
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