RAB39B Antibody

1. we report on two novel RAB39B frameshift variants associated with X-linked Parkinsonism associated with Intellectual Disability and we also describe, for the first time, a somatic mosaicism in a patient carrying RAB39B mutation PMID: 28851564
2. results suggest that RAB39B mutation is very rare in familial PD and may not be a major cause of familial PD in the Chinese Han Population PMID: 27694831
3. This study identified two patients carrying a variant in RAB39B out of 344 male patients with Parkinsonsim. PMID: 27448726
4. Direct sequencing analysis of all coding exons and exon-intron boundaries was performed to detect small sequence alterations in RAB39B gene PMID: 27036214
5. penetrance for autism spectrum disorder is high among males but more variable among females with RAB39B mutations; a critical role for this gene in brain development and function is demonstrated PMID: 29152164
6. X-linked juvenile parkinsonism could be caused by a RAB39B mutation, and basal ganglia calcification may be a novel clinical feature of RAB39B-related parkinsonism. PMID: 27943471
7. RAB39B mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies in Caucasian population PMID: 27459931
8. RAB39B mutations are not a common cause of early-onset or familial PD in our Taiwanese population. PMID: 27838047
9. RAB39B mutations are a rare finding in Parkinson disease patients PMID: 26739247
10. RAB39B is an essential regulator of vesicular-trafficking in clinically typical Parkinson's disease PMID: 26399558
11. It plays little or no role in the development of PD in Chinese population. PMID: 26163985
12. RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition PMID: 25784538
13. The loss of RAB39B results in dysregulation of alpha-synuclein homeostasis and a spectrum of neuropathological features that implicate RAB39B in the pathogenesis of Parkinson disease and potentially other neurodegenerative disorders. PMID: 25434005
14. increased dosage of RAB39B causes a disturbed neuronal development leading to cognitive impairment PMID: 24357492
15. Data indicate that myosin Va interacted with multiple new Rab subfamilies including Rab6, Rab14 and Rab39B. PMID: 24006491
16. These results demonstrate developmental and functional neuronal alteration as a consequence of downregulation of RAB39B and emphasize the critical role of vesicular trafficking in the development of neurons and human intellectual abilities. PMID: 20159109
17. RAB39B was expressed in a variety of human tissues and located in human chromosome Xq28. PMID: 12438742

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HGNC: 16499

OMIM: 300271

KEGG: hsa:116442

STRING: 9606.ENSP00000358466

UniGene: Hs.632832