Description
Fibroblast growth factor 9 (FGF-9), also known
as HBGF9 and GAF, is a member of the FGF family of secreted glycoproteins
involved in mammalian skeleton morphogenesis and growth (1). The FGF family is
characterized by a core heparin-binding FGF domain of approximately 120 amino
acids (aa) that exhibits a beta -trefoil structure (2). Mature mouse FGF-9
shares 99% and 100% aa sequence identity with human and rat FGF-9,
respectively. FGF-9, along with FGF-16 and -20, form a FGF subfamily that
shares 65-71% aa sequence identity, binds FGFR3(IIIb), and are efficiently
secreted despite having an uncleavable, bipartite signal sequence (2-4). In
addition to FGFR3(IIIb), FGF-9 binding to the IIIc splice forms of FGFR-1, -2
and -3 have been reported (1,4,6). In the mouse embryo, the location and timing
of FGF-9 expression affects development of the skeleton, cerebellum, lungs,
heart, vasculature, digestive tract, and testes (2, 6-11). Deletion of mouse
FGF-9 is lethal at birth due to lung hypoplasia, and causes rhizomelia, or shortening
of the proximal skeleton (2,10,11). Additionally, a mutation in mouse FGF-9 is
responsible for Elbow knee synostosis (Eks), which causes joint fusions in the elbow
and knee (6). In humans, FGF9 mutations that lower receptor binding can result
multiple synostoses syndrome (SYNS) (7). Altered FGF-9 expression or function
is reported in human colon, endometrial, and ovarian cancers, correlating with
progression, invasiveness, and survival (12-15).
Bioinformatics
| Uniprot |
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| Product By Gene ID |
2254 |
| Alternate Names |
- FGF9
- FGF-9
- fibroblast growth factor 9 (glia-activating factor)
- Fibroblast growth factor 9
- GAF
- glia-activating factor
- HBFG-9
- HBGF-9
- Heparin-binding growth factor 9
- MGC119914
- MGC119915
- SYNS3
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