Aliases for VPS13A Gene
External Ids for VPS13A Gene
Previous HGNC Symbols for VPS13A Gene
Previous GeneCards Identifiers for VPS13A Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for VPS13A Gene
VPS13A (Vacuolar Protein Sorting 13 Homolog A) is a Protein Coding gene. Diseases associated with VPS13A include Choreoacanthocytosis and Curly Hair-Acral Keratoderma-Caries Syndrome. An important paralog of this gene is VPS13C.
UniProtKB/Swiss-Prot Summary for VPS13A Gene
Required for the formation or stabilization of ER-mitochondria contact sites which enable transfer of lipids between the ER and mitochondria (PubMed:30741634). Negatively regulates lipid droplet size and motility (PubMed:30741634). Required for efficient lysosomal protein degradation (PubMed:30709847).