VPS13B, Official Symbol VPS13Bprovided by HGNC Official Full Name vacuolar protein sorting 13 homolog Bprovided by HGNC Primary source HGNC:HGNC:2183 See related Ensembl:ENSG00000132549 MIM:607817; AllianceGenome:HGNC:2183 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CHS1; COH1; BLTP5B 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] Expression Ubiquitous expression in endometrium (RPKM 3.0), ovary (RPKM 2.8) and 25 other tissues See more Orthologs mouse all