Human vacuolar protein sorting 13 homolog B (yeast) ELISA Kit | VPS13B elisa kit
Human Vacuolar protein sorting-associated protein 13B, VPS13B ELISA Kit
NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
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
Research Articles on VPS13B
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Product Notes
The Human VPS13B vps13b (Catalog #AAA9335589) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9335589 ELISA Kit recognizes Human VPS13B. It is sometimes possible for the material contained within the vial of "vacuolar protein sorting 13 homolog B (yeast), ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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