FGFBP1
Chr 4fibroblast growth factor binding protein 1
Also known as: FGF-BP, FGF-BP1, FGFBP, FGFBP-1, HBP17
The encoded protein is a secreted carrier protein that binds to and releases fibroblast growth factors from the extracellular matrix, enhancing their mitogenic activity and signaling during tissue repair and angiogenesis. Mutations in FGFBP1 cause autosomal recessive intellectual disability with microcephaly, seizures, and brain malformations including simplified gyral pattern and corpus callosum abnormalities. The gene shows moderate constraint against loss-of-function variants (pLI 0.59, LOEUF 1.06), and affected individuals typically present in infancy with developmental delays and neurological symptoms.
Some data sources returned errors (1)
pubtator: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FGFBP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools