RAB29 Antibody

1. RAB7L1gene rs1572913 polymorphism (T allele, TC and TT genotype) was associated with decreased risk of PD. PMID: 28807727
2. Mutations in leucine-rich repeat kinase 2 (LRRK2) are the major genetic cause of autosomal-dominantly inherited Parkinson's disease. LRRK2 is implicated in the regulation of intracellular trafficking, neurite outgrowth and PD risk in connection with Rab7L1, a putative interactor of LRRK2. The modulation of Ser72 phosphorylation in Rab7L1 resulted in an alteration of the trans-Golgi network. PMID: 29223392
3. Genetic ablation of RAB7L1 in SH-SY5Y cells recapitulated the findings in amyotrophic lateral sclerosis and frontotemporal dementia fibroblasts and induced pluripotent stem cell neurons PMID: 28334866
4. This study showed that the significant differences in genotypic and allelic frequencies of RAB7L1 promoter polymorphism between patients and controls. PMID: 28245721
5. Our study provides strong support for the susceptibility role of RAB7L1/NUCKS1 rs823118 and MCCC1 rs12637471 in sporadic Parkinson's disease in a Han Chinese population PMID: 26914237
6. Results confirmed the protective effect of the rs1572931 single nucleotide polymorphism on Parkinson's disease and replicated the results of previous studies, in Iranian subjects. PMID: 26344175
7. Rab29 is a regulator of receptor recycling and this GTPase is a shared participant in immune synapse and primary cilium assembly. PMID: 26021297
8. rs1572931 decreases the risk for Parkinson's disease but not for amyotrophic lateral sclerosis (ALS) and multiple system atrophy(MSA) in the Chinese population. However, the polymorphism is unlikely to be a common cause of sporadic ALS and MSA in the Chinese population PMID: 25040112
9. Results suggest that Rab protein Rab29 is essential for the integrity of the trans-Golgi network (TGN) and participates in the retrograde trafficking of mannose-6-phosphate receptor (M6PR). PMID: 24788816
10. RAB7L1 is a binding partners of LRRK2, a candidate genes for risk for sporadic Parkinson disease, and part of a complex that promotes clearance of Golgi-derived vesicles through the autophagy-lysosome system. PMID: 24510904
11. This study confirmed the associations of RAB7L1 with parkinson disease susceptibility and fail to show significant associations of alzheimer disease genome-wide association study (GWAS) top hits with PD susceptibility in a Korean population. PMID: 23820587
12. This study demonistrated that RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk. PMID: 23395371
13. Direct DNA sequencing of the RAB7L1 and SLC41A1 genes within the PARK16 locus in 205 Chinese Parkinson's disease patients shows no significant difference with controls. PMID: 21812739
14. This study demonstrated that specific SNP variations and haplotypes in the PARK16 locus are associated with reduced risk for parkinson disease in Ashkenazim. PMID: 22232350

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HGNC: 9789

OMIM: 603949

KEGG: hsa:8934

STRING: 9606.ENSP00000235932

UniGene: Hs.115325