Details for Gene PRKN

GENE NAME PRKN
CHROMOSOME 6
ENSEMBL ID None
ENTREZ ID ENSG00000185345
UNIPROT ACCESSION NUMBER O60260
GO MOLECULAR FUNCTION ['zinc ion binding', 'kinase binding', 'actin binding', 'protein binding', 'transcription corepressor activity', 'identical protein binding', 'ubiquitin protein ligase activity', 'SH3 domain binding', 'tubulin binding', 'ubiquitin binding', 'chaperone binding', 'cullin family protein binding', 'ubiquitin conjugating enzyme binding', 'heat shock protein binding', 'Hsp70 protein binding', 'G protein-coupled receptor binding', 'F-box domain binding', 'beta-catenin binding', 'PDZ domain binding', 'phospholipase binding', 'ubiquitin protein ligase binding', 'ubiquitin-protein transferase activity', 'protein kinase binding', 'enzyme binding', 'protein-containing complex binding', 'ubiquitin-specific protease binding', 'histone deacetylase binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa04120; hsa04137; hsa04141; hsa05012; hsa05014; hsa05022; R-HSA-1280218; R-HSA-1632852; R-HSA-168256; R-HSA-392499; R-HSA-5205647; R-HSA-5205685; R-HSA-5688426; R-HSA-5689877; R-HSA-597592; R-HSA-9612973; R-HSA-9646399; R-HSA-9663891; R-HSA-977225; R-HSA-983168; R-HSA-983169
9 combinations linked to PRKN OLI1310; OLI127; OLI229; OLI230; OLI228; OLI1311; OLI1312; OLI128; OLI129
9 variants linked to PRKN PRKN:p.Ala138GlyfsTer7; Copy Number Variant deletion on chromosome 6 of the exon2 4 in the gene PRKN; Copy Number Variant deletion on chromosome 6 of the exon3 in the gene PRKN; PRKN:c.523del, p.Thr175ProfsTer2; PRKN:p.Cys441Arg; PRKN:p.Pro437Leu; PRKN:c.1096C>T, p.Arg366Trp; PRKN:p.Met434Lys; PRKN:p.Lys32Thr
3 diseases linked to PRKN NON RARE IN EUROPE: Alzheimer disease; Parkinson disease; Frontotemporal dementia

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