基因名:
FOXI1
产品别名:
FKH10; FKHL10; FREAC-6; FREAC6; HFH-3; HFH3; FOXI1; forkhead box I1; forkhead box I1; forkhead box protein I1; HNF-3/fork-head homolog-3; forkhead-like 10; forkhead-related activator 6; forkhead-related protein FKHL10; forkhead-related transcription factor 6; hepatocyte nuclear factor 3 forkhead homolog 3; 叉头框蛋白I1(FOXI1); 叉头蛋白I1;
背景信息:
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).