VPS13B, Polyclonal Antibody

Anti-VPS13B Antibody (N-Terminus) IHC-plus; VPS13B; Cohen syndrome 1; Cohen syndrome protein 1; KIAA0532; CHS1; COH1; Human VPS13B

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

Rabbit

Human VPS13B. At least five alternatively spliced transcript variants have been observed. COH1 detects two isoforms.

Immunoaffinity Purified

PBS, 0.02% sodium azide

1 mg/ml (lot specific)

Store at -20 degree C. Aliquot to avoid freeze/thaw cycles.

Small volumes of anti-VPS13B antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

Immunohistochemistry (IHC - Paraffin), Western Blot (WB)

IHC-P (5 ug/ml), WB (1 - 2 ug/ml)
Usage: COH1 antibody can be used for detection of COH1 by Western blot at 1-2 ug/ml.

Anti-VPS13B antibody IHC staining of human skin. Immunohistochemistry of formalin-fixed, paraffin-embedded tissue after heat-induced antigen retrieval.

Immunofluorescence of COH1 in human brain tissue with COH1 antibody at 20 ug/ml.

Western blot analysis of COH1 in SK-N-SH cell lysate with COH1 antibody at (A) 1 and (B) 2 ug/ml.

448,536 Da

vacuolar protein sorting 13 homolog B (yeast)

vacuolar protein sorting-associated protein 13B

Vacuolar protein sorting-associated protein 13B

CHS1; COH1; KIAA0532  [Similar Products]

VP13B_HUMAN

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]

VPS13B: May be involved in protein sorting in post Golgi membrane traffic. Defects in VPS13B are a cause of Cohen syndrome (COH1). COH1 is 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. Belongs to the VPS13 family. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: Vesicle; Membrane protein, integral

Chromosomal Location of Human Ortholog: 8q22.2

Biological Process: protein transport

Disease: Cohen Syndrome

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