Aliases for VPS13B Gene
External Ids for VPS13B Gene
Previous HGNC Symbols for VPS13B Gene
Previous GeneCards Identifiers for VPS13B Gene
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]
GeneCards Summary for VPS13B Gene
VPS13B (Vacuolar Protein Sorting 13 Homolog B) is a Protein Coding gene. Diseases associated with VPS13B include Cohen Syndrome and Trichorhinophalangeal Syndrome, Type I. An important paralog of this gene is VPS13C.
UniProtKB/Swiss-Prot for VPS13B Gene
May be involved in protein sorting in post Golgi membrane traffic.