Park 7 acts as positive regulator of androgen receptor-dependent transcription, and may function as redox-sensitive chaperone and as sensor for oxidative stress, as well as preventing aggregation of SNCA. This protein has been shown to protect neurons against oxidative stress and cell death, and to play a role in fertilization. Park7 is detected in tau inclusions in brains from neurodegenerative disease patients, and is generally highly expressed in pancreas, kidney, skeletal muscle, liver, testis and heart, with detectable levels in placenta, brain, astrocytes, Sertoli cells, spermatogonia, spermatids and spermatozoa. Defects in Park7 are the cause of autosomal recessive early-onset Parkinson disease 7 (PARK7), a form of Parkinson disease characterized by onset before 40 years, slow progression and initial good response to levodopa.

HUMAN

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