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 |