FGF9 Chromosome 13
Fibroblast growth factor 9
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What This Gene Does
The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein was isolated as a secreted factor that exhibits a growth-stimulating effect on cultured glial cells. In nervous system, this protein is produced mainly by neurons and may be important for glial cell development. Expression of the mouse homolog of this gene was found to be dependent on Sonic hedgehog (Shh) signaling. Mice lacking the homolog gene displayed a male-to-female sex reversal phenotype, which suggested a role in testicular embryogenesis. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Receptor ligands|Fibroblast growth factor family"
Locus Type
gene with protein product
Location
13q12.11
Ensembl
ENSG00000102678
Associated Conditions (1)
Multiple synostoses syndrome 3
Key Variants
RS776951218
Conflicting classifications of pathogenicity
Multiple synostoses syndrome 3, Multiple synostoses syndrome 3
Health Risk
RS9796160
Conflicting classifications of pathogenicity
Multiple synostoses syndrome 3, Multiple synostoses syndrome 3
Health Risk
RS2542485459
Likely pathogenic
Multiple synostoses syndrome 3, Multiple synostoses syndrome 3
Health Risk
RS2542511852
Likely pathogenic
Multiple synostoses syndrome 3, Multiple synostoses syndrome 3
Health Risk
RS121918322
Pathogenic
Multiple synostoses syndrome 3, Multiple synostoses syndrome 3
Health Risk
RS1555223925
Pathogenic
Multiple synostoses syndrome 3, Multiple synostoses syndrome 3
Health Risk
RS2138150227
Pathogenic
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS776951218 | Health Risk | Conflicting classifications of pathogenicity | Multiple synostoses syndrome 3, Multiple synostoses syndrome 3 |
| RS9796160 | Health Risk | Conflicting classifications of pathogenicity | Multiple synostoses syndrome 3, Multiple synostoses syndrome 3 |
| RS2542485459 | Health Risk | Likely pathogenic | Multiple synostoses syndrome 3, Multiple synostoses syndrome 3 |
| RS2542511852 | Health Risk | Likely pathogenic | Multiple synostoses syndrome 3, Multiple synostoses syndrome 3 |
| RS121918322 | Health Risk | Pathogenic | Multiple synostoses syndrome 3, Multiple synostoses syndrome 3 |
| RS1555223925 | Health Risk | Pathogenic | Multiple synostoses syndrome 3, Multiple synostoses syndrome 3 |
| RS2138150227 | Health Risk | Pathogenic | — |