DISEASES

Disease-gene associations mined from literature

Literature associating VPS13D and autosomal recessive cerebellar ataxia

VPS13D [ENSP00000478104]

Vacuolar protein sorting-associated protein 13D; Functions in promoting mitochondrial clearance by mitochondrial autophagy (mitophagy), also possibly by positively regulating mitochondrial fission . Mitophagy plays an important role in regulating cell health and mitochondrial size and homeostasis.

Synonyms:  VPS13D,  VPS13Dp,  hVPS13D,  A0A2R8Y876,  A0A2R8YD87 ...

Linkouts:  STRING  Pharos  UniProt