Recombinant Human Vacuolar protein sorting-associated protein 13A (VPS13A), Truncated

Uniprot Id

Q96RL7

Target Species

Human

Target Name

VPS13A

Target Full Name

Intermembrane lipid transfer protein VPS13A

Target Function

Required for the formation or stabilization of ER-mitochondria contact sites which enable transfer of lipids between the ER and mitochondria. Negatively regulates lipid droplet size and motility. Required for efficient lysosomal protein degradation.

Target Involvement

Choreoacanthocytosis (CHAC)

Target Subcellular Location

Mitochondrion outer membrane; Peripheral membrane protein. Endoplasmic reticulum membrane; Peripheral membrane protein. Endosome membrane; Peripheral membrane protein. Lysosome membrane; Peripheral membrane protein. Lipid droplet. Golgi apparatus. Cytoplasmic vesicle, secretory vesicle, neuronal dense core vesicle.

Target Protein Families

VPS13 family

Target Tissue Specificity

Widely expressed. Higher expression is found in brain, heart, skeletal muscle and kidney.

Target Research Area

Neuroscience

Target Synonyms

VPS13A; CHAC; KIAA0986; Vacuolar protein sorting-associated protein 13A; Chorea-acanthocytosis protein; Chorein

Target Background

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.