The vsx1 gene encodes a homeodomain transcription factor that regulates retinal cell fate determination. In Xenopus, the Vsx1 protein functions as a transcriptional repressor during retinal bipolar cel...[+]

The vsx1 gene encodes a homeodomain transcription factor that regulates retinal cell fate determination. In Xenopus, the Vsx1 protein functions as a transcriptional repressor during retinal bipolar cell development. It is expressed in the inner nuclear layer of the developing retina, where it specifies bipolar interneuron identity. The protein contains a CVC domain and acts to repress photoreceptor-specific genes in bipolar cells. Vsx1 is required for proper bipolar cell differentiation and synaptic connectivity in the inner plexiform layer. [-]

             posterior polymorphous corneal dystrophy 1
             keratoconus

          KERATOCONUS 1; KTCN1
          CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME; CAASDS

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