PARK2
Gene name: parkinson protein 2, E3 ubiquitin protein ligase (parkin)OMIM ID: 602544
Chromosome location: 6q26
Mutations
| Disease/Phenotype | Parkinson disease, juvenile, type 2 |
|---|---|
| Reference transcript | NM_004562.2 |
| DNA Change | c.871delG |
| A.A. Change | p.Ala291Leufs*7 |
| Exon/Intron | exon 7 |
| Mutation Type | deletion |
| Reference | Munoz E, Pastor P, Marti MJ, Oliva R, Tolosa E.A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism. Neurosci Lett. 2000 Jul 28;289(1):66-8. |