PACRG
parkin coregulated
Summary
This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Known Variants33 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs766673660 | 6:163,149,284 | A/G | — | uncertain significance |
| rs2483448322 | 6:163,149,299 | A/G | — | uncertain significance |
| rs763961063 | 6:163,149,308 | C/T | — | uncertain significance |
| rs115890909 | 6:163,149,339 | G/A | — | benign |
| rs903597205 | 6:163,149,356 | C/T | — | uncertain significance |
| rs760949631 | 6:163,149,408 | G/A | — | uncertain significance |
| rs9356058 | 6:163,151,399 | C/A | — | — |
| rs73013706 | 6:163,169,133 | A/G | intron variant | — |
| rs528235956 | 6:163,188,420 | A/G | — | — |
| rs7744433 | 6:163,198,362 | C/T | intron variant | — |
| rs1931223 | 6:163,199,086 | C/T | intron variant | — |
| rs1333957 | 6:163,205,160 | C/T | — | — |
| rs1333955 | 6:163,213,454 | T/A | — | — |
| rs1040079 | 6:163,214,027 | A/G | intron variant | — |
| rs377178341 | 6:163,235,179 | G/A | — | uncertain significance |
| rs553850351 | 6:163,338,248 | A/C | — | — |
| rs767903540 | 6:163,483,272 | C/T | — | uncertain significance |
| rs766839773 | 6:163,483,285 | A/G | — | uncertain significance |
| rs755071236 | 6:163,483,287 | G/A | — | uncertain significance |
| rs1382077073 | 6:163,510,353 | G/A | — | uncertain significance |
| rs778891928 | 6:163,510,380 | G/A | — | uncertain significance |
| rs1186944630 | 6:163,510,393 | A/G | — | uncertain significance |
| rs188470122 | 6:163,591,722 | A/C | — | — |
| rs11966842 | 6:163,639,850 | C/A | — | — |
| rs11966948 | 6:163,640,262 | C/G | — | — |
| rs6904305 | 6:163,664,812 | T/G | intron variant | — |
| rs183846192 | 6:163,674,144 | C/T | intron variant | — |
| rs57286197 | 6:163,735,853 | C/A | — | benign |
| rs143276239 | 6:163,735,873 | G/A | — | uncertain significance |
| rs199844557 | 6:163,735,946 | G/A | — | uncertain significance |
| rs543247575 | 6:163,735,984 | G/A | — | likely benign |
| rs372089123 | 6:163,735,999 | G/A | — | uncertain significance |
| rs60454188 | 6:163,736,016 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.