FGFBP1

Chr 4

fibroblast growth factor binding protein 1

Also known as: FGF-BP, FGF-BP1, FGFBP, FGFBP-1, HBP17

NCBI Gene: 9982 ENSG00000137440 UniProt: Q14512 OMIM: 607737

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.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a secreted fibroblast growth factor carrier protein. The encoded protein plays a critical role in cell proliferation, differentiation and migration by binding to fibroblast growth factors and potentiating their biological effects on target cells. The encoded protein may also play a role in tumor growth as an angiogenic switch molecule, and expression of this gene has been associated with several types of cancer including pancreatic and colorectal adenocarcinoma. A pseudogene of this gene is also located on the short arm of chromosome 4. [provided by RefSeq, Nov 2011]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.06

LOEUF

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Mechanism