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Mouse Anti-VPS13B Recombinant Antibody (OTI6D1) (CBMAB-V0231-LY)

This product is antibody recognizes VPS13B. The antibody OTI6D1 immunoassay techniques such as: WB.
See all VPS13B antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
OTI6D1
Antibody Isotype
IgG1
Application
WB

Basic Information

Immunogen
Human recombinant protein fragment corresponding to amino acids 91-346 of human VPS13B(NP_858047) produced in E.coli
Specificity
Human
Antibody Isotype
IgG1
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
vacuolar protein sorting 13B
Introduction
This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Entrez Gene ID
157680
UniProt ID
Q7Z7G8
Alternative Names
Vacuolar Protein Sorting 13 Homolog B; CHS1; COH1; Vacuolar Protein Sorting-Associated Protein 13B; Vacuolar Protein Sorting 13 Homolog B (Yeast); Cohen Syndrome Protein 1; Cohen Syndrome 1; KIAA0532;
Function
Mediates the transfer of lipids between membranes at organelle contact sites (By similarity).
Binds phosphatidylinositol 3-phosphate (By similarity).
Functions as a tethering factor in the slow endocytic recycling pathway, to assist traffic between early and recycling endosomes (PubMed:30962439, PubMed:24334764, PubMed:32375900).
Involved in the transport of proacrosomal vesicles to the nuclear dense lamina (NDL) during spermatid development (By similarity).
Plays a role in the assembly of the Golgi apparatus, possibly by mediating trafficking to the Golgi membrane (PubMed:21865173).
Plays a role in the development of the nervous system, and may be required for neuron projection development (PubMed:25492866, PubMed:32560273).
May also play a role during adipose tissue development (PubMed:26358774).
Required for maintenance of the ocular lens (By similarity).
Biological Process
Biological Process acrosome assembly Source:UniProtKB
Biological Process adipose tissue development Source:UniProtKB1 Publication
Biological Process central nervous system development Source:UniProtKB
Biological Process Golgi organization Source:UniProtKB1 Publication
Biological Process Golgi reassembly Source:UniProtKB
Biological Process lipid transport Source:UniProtKB-KW
Biological Process maintenance of lens transparency Source:UniProtKB
Biological Process nervous system development Source:UniProtKB1 Publication
Biological Process neuron projection development Source:UniProtKB1 Publication
Biological Process slow endocytic recycling Source:UniProtKB1 Publication
Biological Process vesicle-mediated transport Source:UniProtKB1 Publication
Cellular Location
Recycling endosome membrane
Cytoplasmic vesicle, secretory vesicle, acrosome membrane
Golgi apparatus, cis-Golgi network membrane
Endoplasmic reticulum-Golgi intermediate compartment membrane
Golgi apparatus, trans-Golgi network membrane
Early endosome membrane
Lysosome membrane
Localizes to proacrosomal and acrosomal vesicles and not the Golgi apparatus during acrosome formation.
Involvement in disease
Cohen syndrome (COH1):
A rare autosomal recessive disorder characterized by obesity, hypotonia, intellectual deficit, characteristic craniofacial dysmorphism and abnormalities of the hands and feet. Characteristic facial features include high-arched or wave-shaped eyelids, a short philtrum, thick hair and low hairline.
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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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