Entrez 23230 | Ensembl ENSG00000197969 | |
 | ||
External IDs MGI: 2444304 HomoloGene: 22068 GeneCards: VPS13A | ||
Vacuolar protein sorting-associated protein 13A is a protein that in humans is encoded by the VPS13A gene.
Contents
Function
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.
Model organisms
Model organisms have been used in the study of VPS13A function. A conditional knockout mouse line called Vps13atm1b(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens performed: - In-depth immunological phenotyping