PARK7

Chr 1AR

Parkinsonism associated deglycase

Also known as: DJ-1, DJ1, GATD2, HEL-S-67p

NCBI Gene: 11315 ENSG00000116288 UniProt: Q99497 OMIM: 606324

The protein functions as a redox-sensitive chaperone and protease that protects neurons against oxidative stress and cell death, and maintains correct mitochondrial morphology and function. Mutations cause autosomal recessive early-onset Parkinson disease 7, typically manifesting in childhood or young adulthood. The gene shows moderate constraint to loss-of-function variants (pLI 0.75, LOEUF 0.53), consistent with its essential neuroprotective role.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Parkinson disease 7, autosomal recessive, early-onsetMIM #606324

Clinical highlights

Gene-disease validity (ClinGen)

Parkinson disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

114

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.53

LOEUF

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Mechanism

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