FGF1

Chr 5

fibroblast growth factor 1

Also known as: AFGF, ECGF, ECGF-beta, ECGFA, ECGFB, FGF-1, FGF-alpha, FGFA

NCBI Gene: 2246 ENSG00000113578 UniProt: P05230 OMIM: 131220

The protein is a fibroblast growth factor that regulates cell survival, division, differentiation, migration, and angiogenesis by binding to FGFR1 and integrins to activate downstream signaling cascades. Mutations cause Hartsfield syndrome, an autosomal recessive disorder characterized by holoprosencephaly, ectrodactyly (split hand/foot malformation), intellectual disability, and genitourinary anomalies with onset in the prenatal period. The condition affects multiple organ systems including the central nervous system, limbs, and genitourinary tract.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

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 functions as a modifier of endothelial cell migration and proliferation, as well as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived cells in vitro, thus is thought to be involved in organogenesis. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]

GeneReviews 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

147

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.86

LOEUF

GOF

Mechanism· predicted

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