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VPS13B vacuolar protein sorting 13 homolog B

Also known as: CHS1; COH1

Summary

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]

Genomic context

Location:
8q22.2
Sequence:
Chromosome: 8; NC_000008.11 (99007014..99877586)
Total number of exons:
77

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