Full Product Name
COH1 Antibody
Product Synonym Names
Cohen syndrome protein 1, CHS1, Vacuolar protein sorting 13 homolog B, VPS13B
Product Gene Name
anti-COH1 antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Species Reactivity
Human, Mouse, Rat
Specificity
At least five alternatively spliced transcript variants have been observed. COH1 detects two isoforms.
Purity/Purification
Affinity chromatography purified via peptide column
Form/Format
PBS containing 0.02% sodium azide.
Immunogen Description
17 amino acid peptide near the amino terminus of human COH1.
Preparation and Storage
Store at 4 degree C for three months and -20 degree C, stable for up to one year.
Other Notes
Small volumes of anti-COH1 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.
Product Categories/Family for anti-COH1 antibody
Total protein Ab
Applications Tested/Suitable for anti-COH1 antibody
ELISA (EIA), Western Blot (WB)
Western Blot (WB) of anti-COH1 antibody
Western blot analysis of COH1 in SK-N-SH cell lysate with COH1 antibody at (A) 1 and (B) 2 ug/ml.
NCBI/Uniprot data below describe general gene information for COH1. It may not necessarily be applicable to this product.
NCBI Accession #
NP_056058
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NCBI GenBank Nucleotide #
NM_015243.2
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UniProt Secondary Accession #
Q709C6; Q709C7; Q7Z7G4; Q7Z7G5; Q7Z7G6; Q7Z7G7; Q8NB77; Q9NWV1; Q9Y4E7; C9JD30[Other Products]
UniProt Related Accession #
Q7Z7G8[Other Products]
Molecular Weight
448,536 Da
NCBI Official Full Name
vacuolar protein sorting-associated protein 13B isoform 3
NCBI Official Synonym Full Names
vacuolar protein sorting 13 homolog B (yeast)
NCBI Official Symbol
VPS13B [Similar Products]
NCBI Official Synonym Symbols
CHS1; COH1
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NCBI Protein Information
vacuolar protein sorting-associated protein 13B
UniProt Protein Name
Vacuolar protein sorting-associated protein 13B
UniProt Synonym Protein Names
Cohen syndrome protein 1
UniProt Gene Name
VPS13B [Similar Products]
UniProt Synonym Gene Names
CHS1; COH1; KIAA0532 [Similar Products]
UniProt Entry Name
VP13B_HUMAN
NCBI Summary for COH1
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 Comments for COH1
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: Membrane protein, integral; Vesicle
Chromosomal Location of Human Ortholog: 8q22.2
Biological Process: protein transport
Disease: Cohen Syndrome
Research Articles on COH1
1. Novel VPS13B deletion mutations in three large Pakistani Cohen Syndrome families suggests a Baloch variant with Autistic-Like features.
Precautions
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Disclaimer
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