rs781346135

This variant is located in the PARK7 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters

Autosomal recessive early-onset Parkinson disease 7; Inborn genetic diseases

About PARK7

The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparently protects neurons against oxidative stress and cell death. Defects in this gene are the cause of autosomal recessive early-onset Parkinson disease 7. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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