The por gene encodes a photoreceptor protein that is a G-protein coupled receptor involved in light detection. It is localized to the plasma membrane and is expressed in photoreceptor cells, where it f...[+]

The por gene encodes a photoreceptor protein that is a G-protein coupled receptor involved in light detection. It is localized to the plasma membrane and is expressed in photoreceptor cells, where it functions in phototransduction. [-]

          ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; AB
          DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY

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