FIBP Chromosome 11
FGF1 intracellular binding protein
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What This Gene Does
Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fibroblast growth factor (aFGF). It is postulated that FIBP may be involved in the mitogenic action of aFGF. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (2)
Tall stature-intellectual disability-renal anomalies syndrome
6 conditions
Key Variants
RS2495606218
Likely pathogenic
Tall stature-intellectual disability-renal anomalies syndrome, Tall stature-intellectual disability-renal anomalies syndrome
Health Risk
RS2495607710
Likely pathogenic
Tall stature-intellectual disability-renal anomalies syndrome, Tall stature-intellectual disability-renal anomalies syndrome
Health Risk
RS886037928
Likely pathogenic
Tall stature-intellectual disability-renal anomalies syndrome, Tall stature-intellectual disability-renal anomalies syndrome
Health Risk
RS786204849
Pathogenic/Likely pathogenic
6 conditions, Tall stature-intellectual disability-renal anomalies syndrome, 6 conditions
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2495606218 | Health Risk | Likely pathogenic | Tall stature-intellectual disability-renal anomalies syndrome, Tall stature-intellectual disability-renal anomalies syndrome |
| RS2495607710 | Health Risk | Likely pathogenic | Tall stature-intellectual disability-renal anomalies syndrome, Tall stature-intellectual disability-renal anomalies syndrome |
| RS886037928 | Health Risk | Likely pathogenic | Tall stature-intellectual disability-renal anomalies syndrome, Tall stature-intellectual disability-renal anomalies syndrome |
| RS786204849 | Health Risk | Pathogenic/Likely pathogenic | 6 conditions, Tall stature-intellectual disability-renal anomalies syndrome, 6 conditions |