Catalog No.
YHK48402
Expression system
E. coli
Species
Homo sapiens (Human)
Protein length
Phe97-Arg209
Predicted molecular weight
15.33 kDa
Nature
Recombinant
Endotoxin level
Please contact with the lab for this information.
Purity
>90% as determined by SDS-PAGE.
Accession
Q96DA2
Applications
ELISA, Immunogen, SDS-PAGE, WB, Bioactivity testing in progress
Form
Lyophilized
Storage buffer
Lyophilized from a solution in PBS pH 7.4, 0.02% NLS, 1mM EDTA, 4% Trehalose, 1% Mannitol.
Reconstitution
Reconstitute in sterile water for a stock solution. A copy of datasheet will be provided with the products, please refer to it for details.
Shipping
In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.
Stability and Storage
Use a manual defrost freezer and avoid repeated freeze thaw cycles. Store at 2 to 8°C for frequent use. Store at -20 to -80°C for twelve months from the date of receipt.
Alternative Names
Ras-related protein Rab-39B, RAB39B
Clinical-Genetic Approach to Conditions with Macrocephaly and ASD/Behaviour Abnormalities: Variants in PTEN and PPP2R5D Are the Most Recurrent Gene Mutations in a Patient-Oriented Diagnostic Strategy., PMID:40282429
Two case reports of RAB39B deletion displaying highly variable parkinsonism., PMID:40245817
Early Levodopa-Induced Motor Complications in RAB39B X-Linked Parkinsonism., PMID:39619277
Contribution of Rare and Potentially Functionally Relevant Sequence Variants in Schizophrenia Risk-Locus Xq28,distal., PMID:39473393
Novel RAB39B loss-of-function mutation in patient with typical early-onset Parkinson's disease., PMID:38503262
Expression of human Ras-related protein Rab39B variant T168K in Caenorhabditis elegans leads to motor dysfunction and dopaminergic neuron degeneration., PMID:38444482
Identification of novel biomarkers in obstructive sleep apnea via integrated bioinformatics analysis and experimental validation., PMID:38077447
Increased level of RAB39B leads to neuronal dysfunction and behavioural changes in mice., PMID:36977207
Deficiency of RAB39B Activates ER Stress-Induced Pro-apoptotic Pathway and Causes Mitochondrial Dysfunction and Oxidative Stress in Dopaminergic Neurons by Impairing Autophagy and Upregulating α-Synuclein., PMID:36715921
RAB39B as a Chemosensitivity-Related Biomarker for Diffuse Large B-Cell Lymphoma., PMID:35910358
Prenatal diagnosis of de novo int22h1/int22h2-mediated Xq28 duplication syndrome involving RAB39B following a previous ambiguous genitalia pregnancy., PMID:35595445
Multimodal imaging of a patient with RAB39B mutation., PMID:35088096
Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model., PMID:34761259
Generation of induced pluripotent stem cell line (ZZUi027-A) derived from skin fibroblasts from a Parkinson's disease patient with RAB39B gene mutation., PMID:34247111
RAB39B-mediated trafficking of the GluA2-AMPAR subunit controls dendritic spine maturation and intellectual disability-related behaviour., PMID:34035473
Dysfunction of RAB39B-Mediated Vesicular Trafficking in Lewy Body Diseases., PMID:33939203
RAB39B Deficiency Impairs Learning and Memory Partially Through Compromising Autophagy., PMID:33364235
A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report., PMID:32873259
RAB39B is redistributed in dementia with Lewy bodies and is sequestered within aβ plaques and Lewy bodies., PMID:32762091
RAB39B's role in membrane traffic, autophagy, and associated neuropathology., PMID:32761840
Genetic Analysis of RAB39B in an Early-Onset Parkinson's Disease Cohort., PMID:32670181
Endosomal sorting pathways in the pathogenesis of Parkinson's disease., PMID:32247367
Distribution of Parkinson's disease associated RAB39B in mouse brain tissue., PMID:32228644
Cerebral organoid and mouse models reveal a RAB39b-PI3K-mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes., PMID:32115408
Clinical and Neuropathological Features Associated With Loss of RAB39B., PMID:31951675
Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels., PMID:31651360
Delineation of MidXq28-duplication syndrome distal to MECP2 and proximal to RAB39B genes., PMID:31090057
Rab39a and Rab39b Display Different Intracellular Distribution and Function in Sphingolipids and Phospholipids Transport., PMID:30987349
Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome., PMID:30788845
Generation of RAB39B knockout isogenic human embryonic stem cell lines to model RAB39B-mediated Parkinson's disease., PMID:29499499
The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease., PMID:29315801
Prenatal diagnosis of sex chromosomal inversion, translocation and deletion., PMID:29257243
Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly., PMID:29152164
Generation of induced pluripotent stem cell line (ZZUi005-A) from a 21-year-old patient with a novel RAB39B gene mutation in X-linked juvenile parkinsonism., PMID:29128816
Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature., PMID:29124790
X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene., PMID:28851564
New Genes Causing Hereditary Parkinson's Disease or Parkinsonism., PMID:28733970
Coordination of AMPA receptor trafficking by Rab GTPases., PMID:28628388
Molecular cytogenetic characterization of five F8 complex rearrangements: utility for haemophilia A genetic counselling., PMID:28475226
Rab GTPases: The Key Players in the Molecular Pathway of Parkinson's Disease., PMID:28400718
A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification., PMID:27943471
Rabs, Membrane Dynamics, and Parkinson's Disease., PMID:27925204
Lack of RAB39B mutations in early-onset and familial Parkinson's disease in a Taiwanese cohort., PMID:27838047
RAB39B gene mutations are not linked to familial Parkinson's disease in China., PMID:27694831
A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy., PMID:27617292
C9ORF72 is a GDP/GTP exchange factor for Rab8 and Rab39 and regulates autophagy., PMID:27494456
RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies., PMID:27459931
Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant., PMID:27448726
For research use only. Not for human or drug use.
