The portal for rare diseases and orphan drugs

There is no disease so rare
that it does not deserve attention

PARK7 - parkinson protein 7

ORPHA124084
Synonym(s)	DJ1, DJ-1
Previous symbols and names	Parkinson disease (autosomal recessive, early onset) 7
Type	gene with protein product
Chromosomal location	1p36.23

OMIM	602533
HGNC	16369
UniProtKB	Q99497
Genatlas	PARK7
Ensembl	ENSG00000116288
IUPHAR-DB	-
Reactome	-

Diseases list

Disease-causing germline mutation(s) in Young adult-onset Parkinsonism
Major susceptibility factor in Amyotrophic lateral sclerosis-parkinsonism-dementia complex

Assessed

Additional information
- Health care resources for this gene
  - Diagnostic tests (28)
- Research activities on this gene
- Orphanet Reports series
  - Prevalence of rare diseases
  - Orphan drugs in Europe
- Getting involved /informed

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.