The protein encoded by grhl2 is a transcription factor of the grainyhead-like family, localized to the nucleus. It functions in regulating tight junction gene expression and is necessary for periderm f...[+]

The protein encoded by grhl2 is a transcription factor of the grainyhead-like family, localized to the nucleus. It functions in regulating tight junction gene expression and is necessary for periderm formation, neural tube closure, and proper epidermal barrier function. It also plays a role in ectoderm development and is implicated in regulating the actin cytoskeleton. [-]

             posterior polymorphous corneal dystrophy
             autosomal dominant nonsyndromic deafness 28
             posterior polymorphous corneal dystrophy 4

          ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME; ECTDS
          CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4; PPCD4

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