FOXL1
Function
Transcription factor required for proper proliferation and differentiation in the gastrointestinal epithelium. Target gene of the hedgehog (Hh) signaling pathway via GLI2 and GLI3 transcription factors (By similarity).
Involvement in disease
Otosclerosis 11
OTSC11
A form of otosclerosis, a pathological condition of the ear characterized by formation of spongy bone in the labyrinth capsule, especially in front of and posterior to the footplate of the stapes, resulting in conductive hearing impairment. Cochlear otosclerosis may also develop, resulting in sensorineural hearing loss. OTSC11 is an autosomal dominant form characterized by onset of progressive deafness in the second to third decade of life. Deafness ranges from moderate to severe, and may be conductive, sensorineural, or mixed.
None
The disease may be caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
Alternative names
FKHL11, FREAC7, FOXL1, Forkhead box protein L1, Forkhead-related protein FKHL11, Forkhead-related transcription factor 7, FREAC-7