gopubmed logo
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

RAB39B, member RAS oncogene family

This gene encodes a member of the Rab family of proteins. Rab proteins are small GTPases that are involved in vesicular trafficking. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Rab5, HAD, ACID, CLIC2, VBP1
Papers on RAB39B
Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.
Deng et al., Changsha, China. In Neurobiol Aging, Oct 2015
More recently, mutations in the RAB39B gene (RAB39B, member RAS oncogene family) have been reported to cause X-linked intellectual disability and early-onset PD with α-synuclein pathology.
High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.
Hattori et al., Tokyo, Japan. In Neurobiol Aging, May 2015
All had been clinically diagnosed, and the prevalence of genetic mutations linked to NBIA (PANK2 [exons 1-7], PLA2G6 [exons 2-17], C19orf12 [exons 1-3], WDR45 [exons 2-11], COASY [exons 1-9], FA2H [exons 1-7], and RAB39B [exons 1, 2]) was evaluated.
Comparison of Gene Expression Profile Between Tumor Tissue and Adjacent Non-tumor Tissue in Patients with Gastric Gastrointestinal Stromal Tumor (GIST).
Wang et al., Shenyang, China. In Cell Biochem Biophys, Feb 2015
Our data showed that the expression levels of 957 genes (RAB39B, member RAS oncogene family; VCAN, versican; etc.) were higher and that of 526 genes (CXCL14, chemokine C-X-C motif ligand 14; MTUS1, microtubule-associated tumor suppressor 1; etc.) were lower in the gastric tumor tissues as compared with normal gastric tissues.
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Lockhart et al., Melbourne, Australia. In Am J Hum Genet, 2015
Genetic analysis of an Australian family with three males displaying clinical features of early-onset parkinsonism and intellectual disability identified a ∼45 kb deletion resulting in the complete loss of RAB39B.
Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
Cheung et al., Houston, United States. In Bmc Med Genet, 2014
It is suggested that the observed cognitive impairment in this syndrome results from increased dosage of RAB39B gene located within the duplicated region.
The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.
D'Adamo et al., Milano, Italy. In Nat Commun, 2014
RAB39B is a member of the RAB family of small GTPases that controls intracellular vesicular trafficking in a compartment-specific manner.
The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.
Zabetian et al., Seattle, United States. In Mol Neurodegener, 2014
RESULTS: We identified a missense mutation (c.574G > A; p.G192R) in the RAB39B gene that closely segregated with disease and exhibited X-linked dominant inheritance with reduced penetrance in females.
Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
Lamb et al., Salt Lake City, United States. In Am J Med Genet A, 2014
We compare our clinical findings to patients with int22h-1/int22h-2-mediated duplications and discuss the potential pathogenicity of genes within the duplicated region, including those within the shared region of overlap, RAB39B and CLIC2.
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.
Froyen et al., In Hum Mutat, 2014
The affected region harbors eight genes of which RAB39B encoding a small GTPase, was the prime candidate since loss-of-function mutations had been linked to ID. RAB39B is expressed at stable levels in lymphocytes from control individuals, suggesting a tight regulation.
Cystatin a, a potential common link for mutant myocilin causative glaucoma.
Borrás et al., Chapel Hill, United States. In Plos One, 2011
Some of the genes were new (RAB39B, STC1, CXCL12, CSTA).
Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.
Radhakrishna et al., Omaha, United States. In Invest Ophthalmol Vis Sci, 2011
Mutation search in exons and splice junctions of candidate genes CTAG2, GAB3, MPP1, F8Bver, FUNDC2, VBP1, RAB39B, CLIC2, TMLHE, SYBL, IL9R, SPRY3, and CXYorf1 did not detect a pathogenic or predisposing variant.
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
D'Adamo et al., Milano, Italy. In Am J Hum Genet, 2010
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.
Gene expression profiling identifies new biological markers of neoplastic germ cells.
Büttner et al., Bonn, Germany. In Anticancer Res, 2007
RESULTS: RAS-related genes (KRAS2, RALA, RAB39B) and various core markers of embryonic stem cells were overexpressed in IGCNU compared to normal testes.
Isolation and characterization of a human novel RAB (RAB39B) gene.
Mao et al., Shanghai, China. In Cytogenet Genome Res, 2001
RAB39B was expressed in a variety of human tissues and located in human chromosome Xq28.
share on facebooktweetadd +1mail to friends