VPS13D

The UBA domain is required for mitochondrial size regulation.

Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Functions in promoting mitochondrial clearance by mitochondrial autophagy (mitophagy), also possibly by positively regulating mitochondrial fission (PubMed:29307555, PubMed:29604224). Mitophagy plays an important role in regulating cell health and mitochondrial size and homeostasis.

Spinocerebellar ataxia, autosomal recessive 4

SCAR4

A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR4 patients manifest ataxic gait with spasticity and hyperreflexia of the lower limbs resulting in difficulty walking. The age at onset is highly variable, ranging from early childhood to adulthood.

None

The disease is caused by variants affecting the gene represented in this entry.

Belongs to the VPS13 family.

Widely expressed.

KIAA0453, VPS13D, Intermembrane lipid transfer protein VPS13D, Vacuolar protein sorting-associated protein 13D

• entrezGene:55187
• omim:608877
• swissprot:Q5THJ4

Proteins

491916Da