Gene: VPS26A

Alternate names for this Gene: HB58|Hbeta58|PEP8A|VPS26

Gene Summary: This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. Alternative splicing results in multiple transcript variants encoding different isoforms.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.1

Description of this Gene: VPS26, retromer complex component A

Type of Gene: protein-coding

rs1802295 in VPS26A gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 21874001 2011 Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.

PMID 23300278 2013 Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.