NP_056058
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
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 Synonym Symbols
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 Synonym Gene Names
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
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Diseases associated with anti-COH1 antibody
Organs/Tissues associated with anti-COH1 antibody
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