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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for VPS13B (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID157680
Official gene symbolVPS13B
Full namevacuolar protein sorting 13 homolog B (yeast)
Aliases,CHS1,COH1,DKFZp313I0811,KIAA0532,
Gene summaryThis 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]
LocationChromosome: 8   Locus: 8q22.2
Gene position100025494 - 100889808  Map Viewer
Gene orientationplus
Gene size864315 bp
Gene sequence
OMIM ID607817