FGF3
Function
Plays an important role in the regulation of embryonic development, cell proliferation, and cell differentiation. Required for normal ear development.
Involvement in disease
Deafness with labyrinthine aplasia, microtia and microdontia
LAMM
Unique autosomal recessive syndrome characterized by type I microtia, microdontia, and profound congenital deafness associated with a complete absence of inner ear structures (Michel aplasia).
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the heparin-binding growth factors family.
Cellular localization
- Secreted
Alternative names
INT2, FGF3, Fibroblast growth factor 3, FGF-3, Heparin-binding growth factor 3, Proto-oncogene Int-2, HBGF-3