PTEN Induced Putative Kinase 1 (PINK1)
BRPK; PARK6; Parkinson Disease(Autosomal Recessive)6
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.
The protein shares 43% and 31% sequence identity with Drosophila CG4523 and C. elegans EEED8.9, respectively. Northern blot analysis detected ubiquitous expression of a 2.7-kb transcript, with highest expression in heart, skeletal muscle, and testis. RT-PCR analysis showed that expression of PINK1 was decreased in ovarian tumors compared with corresponding normal tissues.