Description
Product Characteristics:
FOXI1 is a member of the FOX family of transcription factors. The FOX family is a large group of proteins (consisting of at least 43 members) that share a common DNA binding domain termed winged-helix or forkhead domain. FOX transcription factors play important roles in development, differentiation, aging and hormone responsiveness. Localizing to the nucleus, FOXI1 functions as a transcription factor. Mice with mutated forms of FOXI1 show defects in ear development, implying that FOXI1 plays a significant role in the developmental pathway of ears and, in particular, the cochlea and vestibulum. FOXI1 is an upstream transcription regulator of Pendrin (a protein associated with deafness), suggesting a role for FOXI1 in the pathogenesis of Pendred syndrome (PS), a condition of nonsyndromic hearing loss and enlarged vestibular aqueduct (EVA).
Subcellular location: Nucleus
Synonyms: FKH10, FKHL10, Forkhead Drosophila like 10, Forkhead box I1, Forkhead box protein I1, Forkhead like 10, Forkhead related activator 6, Forkhead related transcription factor 6, Forkhead-related protein FKHL10, FREAC 6, FREAC6, Hepatocyte nuclear factor 3 forkhead homolog 3, HFH 3, HFH3, HNF 3/fork head homolog 3, HNF-3 fork-head homolog 3, Human HNF-3 fork-head homolog-3 HFH-3 mRNA complete cds, MGC34197, FOXI1_HUMAN.
Target Information: 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]