Aliases for VPS45 Gene
External Ids for VPS45 Gene
Previous HGNC Symbols for VPS45 Gene
Previous GeneCards Identifiers for VPS45 Gene
Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]
GeneCards Summary for VPS45 Gene
VPS45 (Vacuolar Protein Sorting 45 Homolog) is a Protein Coding gene. Diseases associated with VPS45 include Neutropenia, Severe Congenital, 5, Autosomal Recessive and Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome. Among its related pathways are Normal wtCFTR traffic / ER-to-Golgi and Platelet activation, signaling and aggregation.
UniProtKB/Swiss-Prot for VPS45 Gene
May play a role in vesicle-mediated protein trafficking from the Golgi stack through the trans-Golgi network.