PARK7 Chromosome 1
Parkinsonism associated deglycase
Upload your DNA to see your personal genotypes for variants in PARK7.
What This Gene Does
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]
Gene Info
Gene Group
Glutamine amidotransferase class 1 domain containing
Locus Type
gene with protein product
Location
1p36.23
Ensembl
ENSG00000116288
Associated Conditions (7)
Autosomal recessive early-onset Parkinson disease 7
Young-onset Parkinson disease
Parkinson disease
autosomal recessive early-onset
digenic
PINK1/DJ1
Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Key Variants
RS71653621
Conflicting classifications of pathogenicity
Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
Health Risk
RS142405016
Likely pathogenic
Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
Health Risk
RS1472900688
Likely pathogenic
Young-onset Parkinson disease, Young-onset Parkinson disease
Health Risk
RS1578089802
Likely pathogenic
Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
Health Risk
RS2151432401
Likely pathogenic
Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
Health Risk
RS759703272
Likely pathogenic
Health Risk
RS764877312
Likely pathogenic
Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
Health Risk
RS1252815484
Pathogenic
Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
Health Risk
RS137853051
Pathogenic
Parkinson disease, autosomal recessive early-onset, digenic
Health Risk
RS1553122918
Pathogenic
Amyotrophic lateral sclerosis-parkinsonism-dementia complex, Amyotrophic lateral sclerosis-parkinsonism-dementia complex
Health Risk
RS1553122929
Pathogenic
Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
Health Risk
RS28938172
Pathogenic
Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS71653621 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7 |
| RS142405016 | Health Risk | Likely pathogenic | Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7 |
| RS1472900688 | Health Risk | Likely pathogenic | Young-onset Parkinson disease, Young-onset Parkinson disease |
| RS1578089802 | Health Risk | Likely pathogenic | Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7 |
| RS2151432401 | Health Risk | Likely pathogenic | Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7 |
| RS759703272 | Health Risk | Likely pathogenic | — |
| RS764877312 | Health Risk | Likely pathogenic | Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7 |
| RS1252815484 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7 |
| RS137853051 | Health Risk | Pathogenic | Parkinson disease, autosomal recessive early-onset, digenic |
| RS1553122918 | Health Risk | Pathogenic | Amyotrophic lateral sclerosis-parkinsonism-dementia complex, Amyotrophic lateral sclerosis-parkinsonism-dementia complex |
| RS1553122929 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7 |
| RS28938172 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7 |
| RS374429170 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7 |
| RS74315351 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7 |
| RS74315353 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7 |
| RS781600849 | Health Risk | Pathogenic | Autosomal recessive early-onset Parkinson disease 7, Autosomal recessive early-onset Parkinson disease 7 |