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VPS13B
vacuolar protein sorting 13 homolog B (yeast)
VPS13B is 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.
| Gene Name: | vacuolar protein sorting 13 homolog B (yeast) |
| Synonyms: | VPS13B, Cohen syndrome 1, Cohen syndrome protein 1, KIAA0532, CHS1, COH1 |
| Target Sequences: | NM_017890 NP_060360.3 Q7Z7G8 |
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