FOXI1
Description
The FOXI1 (forkhead box I1) is a protein-coding gene located on chromosome 5.
FOXI1 is a protein encoded by the FOXI1 gene in humans. It belongs to the forkhead family of transcription factors, characterized by a distinct forkhead domain. While its specific function remains unclear, FOXI1 is believed to be involved in the development of the cochlea and vestibulum, as well as embryogenesis. Two transcript variants encoding different isoforms have been identified for this gene. Mutations in FOXI1 are linked to enlarged vestibular aqueduct.
FOXI1 is a transcriptional activator essential for normal hearing, balance, and kidney function. It regulates the expression of genes like SLC26A4/PDS, JAG1, and COCH in specific epithelial cells, contributing to the development of the inner ear's endolymphatic system. Additionally, FOXI1 controls the expression of SLC4A1/AE1, SLC4A9/AE4, and ATP6V1B1, playing a role in the differentiation of intercalated cells within the distal renal tubules.
FOXI1 is also known as FKH10, FKHL10, FREAC-6, FREAC6, HFH-3, HFH3.
