Ontology highlight
ABSTRACT:
SUBMITTER: Park JS
PROVIDER: S-EPMC7851852 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Molecular biology of the cell 20200826 22
Vps13 is a highly conserved lipid transfer protein found at multiple interorganelle membrane contact sites where it mediates distinct processes. In yeast, recruitment of Vps13 to different contact sites occurs via various partner proteins. In humans, four VPS13 family members, A-D, are associated with different diseases. In particular, <i>vps13A</i> mutants result in the neurodegenerative disorder Chorea-Acanthocytosis (ChAc). ChAc phenotypes resemble those of McLeod Syndrome, caused by mutation ...[more]