Gene: LOC105369171

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: PRKN

Alternate names for this Gene: AR-JP|LPRS2|PARK2|PDJ

Gene Summary: The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to cause Parkinson disease and autosomal recessive juvenile Parkinson disease. Alternative splicing of this gene produces multiple transcript variants encoding distinct isoforms. Additional splice variants of this gene have been described but currently lack transcript support.

Gene is located in Chromosome: 6

Location in Chromosome : 6q26

Description of this Gene: parkin RBR E3 ubiquitin protein ligase

Type of Gene: protein-coding

rs11759064 in LOC105369171;PRKN gene and Vesico-Ureteral Reflux PMID 29097723 2017 Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux.