Aliases for FOXI1 Gene
External Ids for FOXI1 Gene
Previous HGNC Symbols for FOXI1 Gene
Previous GeneCards Identifiers for FOXI1 Gene
This gene belongs to the forkhead family of transcription factors, which is characterized by a distinct forkhead domain. This gene may play an important role in the development of the cochlea and vestibulum, as well as in embryogenesis. The encoded protein has been found to be required for the transcription of four subunits of a proton pump found in the inner ear, the kidney, and the epididymis. Mutations in this gene have been associated with deafness, autosomal recessive 4. [provided by RefSeq, Jan 2017]
GeneCards Summary for FOXI1 Gene
FOXI1 (Forkhead Box I1) is a Protein Coding gene. Diseases associated with FOXI1 include Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct and Pendred Syndrome. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II core promoter proximal region sequence-specific DNA binding. An important paralog of this gene is FOXI3.
UniProtKB/Swiss-Prot for FOXI1 Gene
Transcriptional activator required for the development of normal hearing, sense of balance and kidney function. Required for the expression of SLC26A4/PDS, JAG1 and COCH in a subset of epithelial cells and the development of the endolymphatic system in the inner ear. Also required for the expression of SLC4A1/AE1, SLC4A9/AE4, ATP6V1B1 and the differentiation of intercalated cells in the epithelium of distal renal tubules (By similarity).