Details for Gene PINK1

GENE NAME PINK1
CHROMOSOME 1
ENSEMBL ID ENSG00000158828
ENTREZ ID 65018
UNIPROT ACCESSION NUMBER Q9BXM7
GO MOLECULAR FUNCTION protein binding; kinase activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa05012; R-HSA-73857; R-HSA-5205685; R-HSA-9612973; R-HSA-212436; R-HSA-9614657; R-HSA-1632852; R-HSA-74160; hsa05022; R-HSA-5205647; R-HSA-9614085; hsa04137; hsa05014; R-HSA-9663891
7 combinations linked to PINK1 OLI129; OLI229; OLI127; OLI230; OLI209; OLI228; OLI128
7 variants linked to PINK1 PINK1:c.169_170dup, p.Arg58_Val59insGlyArg; PINK1:p.Arg407Gln; PINK1:p.Glu476Lys; PINK1:c.1196C>T, p.Pro399Leu; PINK1:c.1612A>C, p.Thr538Pro; PINK1:c.364G>A, p.Val122Ile; PINK1:c.1444G>A, p.Val482Met
2 diseases linked to PINK1 Parkinson disease; Young-onset Parkinson disease

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