Gene: PARK7

Alternate names for this Gene: DJ-1|DJ1|GATD2|HEL-S-67p

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.23

Description of this Gene: Parkinsonism associated deglycase

Type of Gene: protein-coding

rs3766606 in PARK7 gene and Ankylosing spondylitis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs161802 in PARK7 gene and Cerebrovascular accident PMID 24262325 2014 Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.

rs3766606 in PARK7 gene and Cholangitis, Sclerosing PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs3766606 in PARK7 gene and Crohn Disease PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs35675666 in PARK7 gene and Inflammatory Bowel Diseases PMID 23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs28938172 in PARK7 gene and PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

PMID 15365989 2004 Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7).

PMID 14713311 2003 A missense mutation (L166P) in DJ-1, linked to familial Parkinson's disease, confers reduced protein stability and impairs homo-oligomerization.

PMID 12953260 2003 The role of pathogenic DJ-1 mutations in Parkinson's disease.

PMID 19229105 2009 Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation.

PMID 15254937 2004 Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations.

PMID 23792957 2013 Parkinson disease protein DJ-1 binds metals and protects against metal-induced cytotoxicity.

PMID 22523093 2012 Human DJ-1 and its homologs are novel glyoxalases.

PMID 12446870 2003 Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism.

PMID 14607841 2004 Differential effects of Parkinson's disease-associated mutations on stability and folding of DJ-1.

PMID 12851414 2003 L166P mutant DJ-1, causative for recessive Parkinson's disease, is degraded through the ubiquitin-proteasome system.

PMID 17846173 2007 Parkin-mediated K63-linked polyubiquitination targets misfolded DJ-1 to aggresomes via binding to HDAC6.

PMID 23847046 2013 DJ-1 associates with lipid rafts by palmitoylation and regulates lipid rafts-dependent endocytosis in astrocytes.

PMID 15365989 2004 Analyzing the PARK7/DJ1 gene in 104 EOPD patients, we identified a third mutation, c.192G>C (p.E64D), associated with EOPD in a patient of Turkish ancestry and characterized the functional significance of this amino acid substitution.

rs3766606 in PARK7 gene and Psoriasis PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

rs35675666 in PARK7 gene and Ulcerative Colitis PMID 21297633 2011 Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.

PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

PMID 26192919 2015 Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.

PMID 26974007 2016 Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.