May 3, 2021 · Critically, RAB39B loss-of-function mutations are known to be associated with X-linked intellectual disability and with rare early-onset Parkinson's disease. Moreover, recent studies have highlighted altered RAB39B expression in idiopathic cases of several Lewy body diseases (LBDs).

Recent studies have now unraveled possible mechanisms underlying the neuropathological roles of this brain-enriched small GTPase. Studies in RAB39B knockout mice showed that RAB39B interacts with components of Class I phosphatidylinositol-3-kinase (PI3K) signaling.

Mar 18, 2015 · Here we show that protein interacting with C-kinase 1 (PICK1) is a downstream effector of GTP-bound RAB39B and that RAB39B-PICK1 controls trafficking from the endoplasmic reticulum to the Golgi...

Mar 30, 2025 · RAB39B (RAB39B, Member RAS Oncogene Family) is a Protein Coding gene. Diseases associated with RAB39B include Waisman Syndrome and Intellectual Developmental Disorder, X-Linked 72. Among its related pathways are Vesicle-mediated transport and Rab regulation of trafficking.

Overall, we have shown that loss-of-function mutations in RAB39B cause intellectual disability and pathologically confirmed early-onset Parkinson disease.

May 25, 2021 · One of the functions of the neuronal small GTPase RAB39B is to drive GluA2/GluA3 α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPAR) maturation and trafficking, determining...

In the present study, we established Rab39b knockout (KO) mice, which exhibited overall normal birth rate and morphologies as wild type mice. However, Rab39b deficiency led to reduced anxiety and impaired learning and memory in 2 months old mice.

Oct 1, 2021 · RAB proteins, such as RAB39B, are small GTPases involved in the regulation of vesicular trafficking between membrane compartments (Cheng et al., 2002). Cloning and Expression During large-scale sequencing of a human fetal brain cDNA library, Cheng et al. (2002) cloned RAB39B.

Functional enrichment analysis of RAB39B co-expression genes revealed that RAB39B was closely related to DNA replication, protein synthesis, cytokine–cytokine receptor interaction, JAK-STAT signaling pathway, NF-kappa B signaling pathway, and autophagy.

Loss of function mutations within the vesicular trafficking protein Ras analogy in brain 39B (RAB39B) are associated with rare X-linked Parkinson's disease (PD).