The prom1 gene encodes a pentaspan transmembrane glycoprotein localized to the plasma membrane, particularly in apical structures of epithelial cells including the neural tube, gut, and pronephros. It ...[+]

The prom1 gene encodes a pentaspan transmembrane glycoprotein localized to the plasma membrane, particularly in apical structures of epithelial cells including the neural tube, gut, and pronephros. It is associated with the formation of a specialized microvilli-rich domain known as the prominosome. Expression is also found within the developing retina and central nervous system. [-]

             Stargardt disease
             retinitis pigmentosa 41
             cone-rod dystrophy 12
             retinitis pigmentosa
             retinal macular dystrophy 2

          MACULAR DYSTROPHY, RETINAL, 2; MCDR2
          CONE-ROD DYSTROPHY 12; CORD12
          STARGARDT DISEASE 4; STGD4

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD