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…

ARLOEUF 0.531 OMIM phenotype

Clinical Summary— PARK7

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Gene-Disease Validity (ClinGen)

Parkinson disease · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.75) — some intolerance to loss-of-function variants.

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ClinVar Variants

21 unique Pathogenic / Likely Pathogenic· 56 VUS of 167 total submissions

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GeneReview available — PARK7

Authoritative clinical overview · Recommended first read

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.53LOEUF

pLI 0.753

Z-score 2.47

OE 0.11 (0.04–0.53)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.16Z-score

OE missense 0.96 (0.81–1.13)

104 obs / 108.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.11 (0.04–0.53)

0≤0.351.4

Missense OE?0.96 (0.81–1.13)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 1 / 9.0Missense obs/exp: 104 / 108.8Syn Z: 0.34

ClinVar Variant Classifications

167 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14

Likely Pathogenic7

VUS56

Likely Benign35

Benign41

Conflicting1

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	4	6	4	0	14
Likely Pathogenic	3	4	0	0	7
VUS	3	44	9	0	56
Likely Benign	0	3	22	10	35
Benign	0	0	41	0	41
Conflicting	—				1
Total	10	57	76	10	154

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

42 pathogenic / likely-pathogenic (of 50) ClinVar copy-number / structural variants overlap PARK7 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →