Vacuolar protein sorting-associated protein 13D (VPS13D)

Vacuolar protein sorting-associated protein 13D (VPS13D) is a large, conserved intermembrane lipid transfer protein involved in maintaining mitochondrial and peroxisomal health by mediating lipid transport at membrane contact sites, especially between the endoplasmic reticulum, mitochondria, and peroxisomes[1][2][3]. It contains distinctive domains such as a ubiquitin-associated (UBA) domain, enabling binding to ubiquitin chains and involvement in mitophagy, the process by which damaged mitochondria are selectively cleared[4]. VPS13D is crucial for proper mitochondrial morphology, distribution, and DNA maintenance; its deficiency leads to mitochondrial dysfunction, abnormal organelle morphology, and loss of peroxisomes, typically resulting in severe, recessive neurological disorders such as spinocerebellar ataxia 24[1][2][3]. No drugs are currently known to directly target VPS13D, and it is not typically considered a standard therapeutic target in clinical pharmacology[2][3].

Other names

Intermembrane lipid transfer protein VPS13DKIAA0453FLJ10619BLTP5DBridge-like lipid transfer protein family member 5DVacuolar protein sorting 13 homolog DSpinocerebellar ataxia 24 proteinSCA24SCAR4SCASI