FOXI1 Antibody – Goat Polyclonal

This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it is possible that this gene plays an important role in the development of the cochlea and vestibulum, as well as embryogenesis. Mutations in this gene may be associated with the common cavity phenotype. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

FOXI1: 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. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 5q34

Cellular Component: nucleus

Molecular Function: DNA bending activity; sequence-specific DNA binding; transcription factor activity

Biological Process: embryonic development; inner ear morphogenesis; positive regulation of transcription from RNA polymerase II promoter; transcription from RNA polymerase II promoter

Disease: Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct; Pendred Syndrome