VPS36

---

Description

The VPS36 (vacuolar protein sorting 36 homolog) is a protein-coding gene located on chromosome 13.

Vacuolar protein-sorting-associated protein 36 is a protein that in humans is encoded by the VPS36 gene.

VPS36 is a component of the ESCRT-II complex, essential for the formation of multivesicular bodies (MVBs) and the sorting of cargo proteins into these vesicles. MVBs transport transmembrane proteins to the lysosome for degradation. The ESCRT-II complex likely recruits the ESCRT-III complex and contributes to sorting ubiquitinated cargo proteins through its ubiquitin binding ability. VPS36 might also participate in transcription regulation through its interaction with ELL. Additionally, it binds phosphoinositides, such as PtdIns(3,4,5)P3.

VPS36 is also known as C13orf9, CGI-145, EAP45.

Associated Diseases

• retinitis pigmentosa
• X-linked retinal dysplasia
• severe early-childhood-onset retinal dystrophy
• reticular dystrophy of the retinal pigment epithelium
• choroidal dystrophy, central areolar, 1
• age related macular degeneration 7
• age related macular degeneration 11
• age related macular degeneration 4
• coloboma of macula
• X-linked retinoschisis
• coloboma of optic nerve
• Stargardt disease 4
• late-onset retinal degeneration
• familial retinal arterial macroaneurysm