Gene: VPS13A

Alternate names for this Gene: CHAC|CHOREIN

Gene Summary: The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 9

Location in Chromosome : 9q21.2

Description of this Gene: vacuolar protein sorting 13 homolog A

Type of Gene: protein-coding

rs1400127478 in VPS13A gene and Chorea Acanthocytosis Syndrome PMID 12404112 2002 Mutational spectrum of the CHAC gene in patients with chorea-acanthocytosis.

PMID 11381253 2001 A conserved sorting-associated protein is mutant in chorea-acanthocytosis.

rs12338283 in VPS13A gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12338283 in VPS13A gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs62573167 in VPS13A gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs117983287 in VPS13A gene and Sepsis PMID 27639821 2016 Genetic Factors of the Disease Course after Sepsis: A Genome-Wide Study for 28Day Mortality.