ATP13A2
Gene Ontology Biological Process
Gene Ontology Molecular Function
Gene Ontology Cellular Component
LAMP1
Gene Ontology Biological Process
- Golgi to lysosome transport [IMP]
- establishment of protein localization to organelle [IMP]
- granzyme-mediated apoptotic signaling pathway [IMP]
- positive regulation of natural killer cell degranulation [IMP]
- positive regulation of natural killer cell mediated cytotoxicity [IMP]
- protein stabilization [ISS]
- regulation of organelle transport along microtubule [IMP]
Gene Ontology Molecular Function
Gene Ontology Cellular Component
Co-localization
Interaction inferred from two proteins that co-localize in the cell by indirect immunofluorescence only when in addition, if one gene is deleted, the other protein becomes mis-localized. Also includes co-dependent association of proteins with promoter DNA in chromatin immunoprecipitation experiments.
Publication
Common pathogenic effects of missense mutations in the P-type ATPase ATP13A2 (PARK9) associated with early-onset parkinsonism.
Mutations in the ATP13A2 gene (PARK9) cause autosomal recessive, juvenile-onset Kufor-Rakeb syndrome (KRS), a neurodegenerative disease characterized by parkinsonism. KRS mutations produce truncated forms of ATP13A2 with impaired protein stability resulting in a loss-of-function. Recently, homozygous and heterozygous missense mutations in ATP13A2 have been identified in subjects with early-onset parkinsonism. The mechanism(s) by which missense mutations potentially cause parkinsonism are ... [more]
Throughput
- Low Throughput
Additional Notes
- figure 4.
Curated By
- BioGRID