Abstract
Mutations in the parkin gene have been shown to be responsible for a substantial number of cases of autosomal recessive early onset parkinsonism (AR-JP, PARK2, OMIM 602544) worldwide (1–4). The gene on chromosome 6q25.2-27 consists of 12 coding exons with an open reading frame of 1395 bp. The gene is estimated to cover >1.5 Mb. The gene product, Parkin, functions an an E3-ubiquitin-protein ligase (5). The only known substrate to date is CDCrel-1 (6) but the existence of other substrates is likely (5).
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References
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Lücking, C.B., Brice, A. (2003). Semiquantitative PCR for the Detection of Exon Rearrangements in the Parkin Gene. In: Potter, N.T. (eds) Neurogenetics. Methods in Molecular Biology™, vol 217. Springer, Totowa, NJ. https://doi.org/10.1385/1-59259-330-5:13
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DOI: https://doi.org/10.1385/1-59259-330-5:13
Publisher Name: Springer, Totowa, NJ
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