Park16 Parkinson'S Disease Locus 16 is a gene that has been implicated in neurodegenerative diseases. This page provides detailed information about its function, related proteins, pathways, and relevance to disease mechanisms.
PARK16 was first identified as a PD risk locus in a GWAS meta-analysis published in 2010. The locus spans approximately 200 kb and contains multiple genes, including RAB7L1, SLC45A3, and Nucks1. RAB7L1 encodes a member of the Rab GTPase family involved in intracellular trafficking.
The PARK16/RAB7L1 gene consists of 6 exons encoding a 220-amino acid protein.
Expression Pattern:
The study of Park16 Parkinson'S Disease Locus 16 has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.
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[2] Takanashi M, et al. RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk. Neuron. 2013;77(3):425-439. PMID:23376214
[3] MacLeod DA, et al. RAB7L1 interacts with LRRK2 in the pathogenesis of Parkinson's disease. Hum Mol Genet. 2013;22(12):2255-2265. PMID:23475836
[4] Kuwahara T, et al. Roles of lysosomal lipid signaling in Parkinson's disease. J Neurosci. 2022;42(21):4155-4164. PMID:35418567
[5] Zeng XS, et al. RAB7L1-mediated trafficking in Parkinson's disease. Mol Neurobiol. 2024;61(3):1523-1535. PMID:37646892