The foxi1 protein is a forkhead domain transcription factor expressed in the ectoderm, otic placode, epidermis, and pronephric kidney. It functions in epidermal differentiation where it is required for...[+]

The foxi1 protein is a forkhead domain transcription factor expressed in the ectoderm, otic placode, epidermis, and pronephric kidney. It functions in epidermal differentiation where it is required for the development of ionocytes, which are involved in ion transport. In the developing pronephros, foxi1 is necessary for the formation of the proton-secreting intercalated cell lineage and regulates genes like slc4a4 and atp6v1g3. It also acts as a transcriptional repressor. The protein localizes to the nucleus. [-]

             Pendred Syndrome
             autosomal recessive nonsyndromic deafness 4

          PENDRED SYNDROME; PDS

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

GSE76342.