2024年12月25日 · RAB11B (RAB11B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB11B include Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter and Lissencephaly. Among its related pathways are Vesicle-mediated transport and Metabolism of proteins.

Rab (Ras-related in brain) proteins form the largest section of the Ras superfamily of small GTPases. The Rab family proteins regulate intracellular membrane trafficking processes including vesicle budding, tethering, and fusion. The isoforms Rab11a, Rab11b, and Rab11c/ Rab25 constitute the Rab11 subfamily based on specific sequence motifs. [7] .

2019年7月1日 · Expression of wild-type Rab11a in Rab11a knockout cells rescued the late endosome/lysosome phenotype. Overall, these results indicate that Rab11a and Rab11b have overlapping and distinct functions and that Rab11a, unexpectedly, plays a central role in the homeostasis of endosomal-lysosomal biogenesis.

2020年6月15日 · Proteomic analysis reveals that Rab11b controls the cell surface proteome, recycling proteins required for successful interaction with the microenvironment, including integrin β1....

Recurrent de novo mutations disturbing the GTP/GDP binding pocket of RAB11B cause intellectual disability and a distinctive brain phenotype. High RAB11B expression is associated with pancreatic cancer. Rab11A and Rab11B differentially regulate intracellular trafficking of PAR1 through distinct endosomal sorting mechanisms

The small Rab GTPase RAB11B plays a role in endocytic recycling, regulating apical recycling of several transmembrane proteins including cystic fibrosis transmembrane conductance regulator/CFTR, epithelial sodium channel/ENaC, potassium voltage-gated channel, and voltage-dependent L-type calcium channel.

RAB11B，RAS 致癌基因家族成员： 小 GTP 结合蛋白的 Ras 超家族，包括 Ras (参见 MIM 190020) 、Ral (参见 MIM 179550) 、Rho (参见 MIM 165390) 、Rap (参见 MIM 179520) 和 Rab (参见 MIM 179508) 家族，参与控制一组不同的基本细胞功能。

2024年6月17日 · Clinical resource with information about RAB11B, Common variants at 30 loci contribute to polygenic dyslipidemia., Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, and available tests.

The RAB11B gene encodes a member of the Rab11 GTPase subfamily that specifically associates with recycling endosomes and is implicated in the regulation of vesicular trafficking. See also RAB11A (605570) and RAB11C (RAB25; 612942).

2020年6月15日 · Rab11b-mediated control of integrin β1 surface expression allows efficient engagement with the brain ECM, activating mechanotransduction signaling to promote survival. Lipophilic statins prevent membrane association and activity of Rab11b, and we provide proof-of principle that these drugs prevent breast cancer adaptation to the brain ...