RUBCN
Description
The RUBCN (rubicon autophagy regulator) is a protein-coding gene located on chromosome 3.
RUBCN inhibits the activity of PIK3C3, a key enzyme in autophagy. Under normal conditions, it negatively regulates the function of PI3K complex II (PI3KC3-C2) in autophagy. This inhibition affects endosome maturation, degradative endocytic trafficking, and the maturation of autophagosomes. RUBCN can also sequester UVRAG, preventing its association with the HOPS complex, further impacting Rab7 activation and autophagy.
RUBCN is also known as KIAA0226, RUBICON, SCAR15.
Associated Diseases
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
- Spinocerebellar ataxia, autosomal recessive 15
