DISEASES

Disease-gene associations mined from literature

Literature associating PROM1 and Leber congenital amaurosis

PROM1 [ENSP00000426809]

Prominin-1; May play a role in cell differentiation, proliferation and apoptosis . Binds cholesterol in cholesterol- containing plasma membrane microdomains and may play a role in the organization of the apical plasma membrane in epithelial cells. During early retinal development acts as a key regulator of disk morphogenesis. Involved in regulation of MAPK and Akt signaling pathways. In neuroblastoma cells suppresses cell differentiation such as neurite outgrowth in a RET-dependent manner .

Synonyms:  PROM1,  PROM1p,  hPROM1,  A0A0A0N0M1,  CD133 ...

Linkouts:  STRING  Pharos  UniProt