Immunohistochemistry of paraffin-embedded human small intestine tissue using CSB-PA822194LA01HU at dilution of 1:100
Immunohistochemistry of paraffin-embedded human brain tissue using CSB-PA822194LA01HU at dilution of 1:100
Immunofluorescent analysis of HepG2 cells using CSB-PA822194LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)
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用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Small GTPases Rab involved in autophagy. The small GTPases Rab are key regulators of intracellular membrane trafficking, from the formation of transport vesicles to their fusion with membranes. Rabs cycle between an inactive GDP-bound form and an active GTP-bound form that is able to recruit to membranes different sets of downstream effectors directly responsible for vesicle formation, movement, tethering and fusion. May regulate the homeostasis of SNCA/alpha-synuclein. Together with PICK1 proposed to ensure selectively GRIA2 exit from the endoplasmic reticulum to the Golgi and to regulate AMPAR compostion at the post-synapses and thus synaptic transmission.
基因功能參考文獻:
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
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
This study identified two patients carrying a variant in RAB39B out of 344 male patients with Parkinsonsim. PMID: 27448726
Direct sequencing analysis of all coding exons and exon-intron boundaries was performed to detect small sequence alterations in RAB39B gene PMID: 27036214
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
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
RAB39B mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies in Caucasian population PMID: 27459931
RAB39B mutations are not a common cause of early-onset or familial PD in our Taiwanese population. PMID: 27838047
RAB39B mutations are a rare finding in Parkinson disease patients PMID: 26739247
RAB39B is an essential regulator of vesicular-trafficking in clinically typical Parkinson's disease PMID: 26399558
It plays little or no role in the development of PD in Chinese population. PMID: 26163985
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
increased dosage of RAB39B causes a disturbed neuronal development leading to cognitive impairment PMID: 24357492
Data indicate that myosin Va interacted with multiple new Rab subfamilies including Rab6, Rab14 and Rab39B. PMID: 24006491
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
RAB39B was expressed in a variety of human tissues and located in human chromosome Xq28. PMID: 12438742