Gene: VPS45

Alternate names for this Gene: H1|H1VPS45|SCN5|VPS45A|VPS45B|VPS54A|VSP45|VSP45A

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.2

Description of this Gene: vacuolar protein sorting 45 homolog

Type of Gene: protein-coding

rs2318763 in VPS45 gene and Major Depressive Disorder PMID 30626913 2019 Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression.

rs782269909 in VPS45 gene and NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE PMID 23738510 2013 A congenital neutrophil defect syndrome associated with mutations in VPS45.

rs2318763 in VPS45 gene and Schizophrenia PMID 30626913 2019 Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression.