DISEASES

Disease-gene associations mined from literature

Literature associating VPS25 and rigid spine muscular dystrophy 1

VPS25 [ENSP00000253794]

Vacuolar protein sorting 25 homolog (S. cerevisiae); Component of the ESCRT-II complex (endosomal sorting complex required for transport II), which is required for multivesicular body (MVB) formation and sorting of endosomal cargo proteins into MVBs. The MVB pathway mediates delivery of transmembrane proteins into the lumen of the lysosome for degradation. The ESCRT-II complex is probably involved in the recruitment of the ESCRT-III complex. The ESCRT-II complex may also play a role in transcription regulation, possibly via its interaction with ELL. The ESCRT-II complex may be involved in facilitating the budding of certain RNA viruses.

Synonyms:  VPS25,  VPS25p,  hVPS25,  A0A024R1X3,  K7ENE3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM