FGF20

Chr 8AR

fibroblast growth factor 20

Also known as: FGF-20, RHDA2

NCBI Gene: 26281 ENSG00000078579 UniProt: Q9NP95 OMIM: 605558

This gene encodes a secreted neurotrophic factor that regulates central nervous system development and function, with particular expression in the cerebellum. Mutations cause renal hypodysplasia/aplasia 2 through autosomal recessive inheritance. The gene shows high constraint against loss-of-function variants (pLI 0.81, LOEUF 0.54), suggesting intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the fibroblast growth factor family. The fibroblast growth factors 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 gene product is a secreted neurotrophic factor but lacks a typical signal peptide. It is expressed in normal brain, particularly the cerebellum, and may regulate central nervous system development and function. Homodimerization of this protein was shown to regulate its receptor binding activity and concentration gradient in the extracellular matrix. Genetic variations of this gene have been associated with Parkinson disease susceptibility. [provided by RefSeq, Oct 2009]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Renal hypodysplasia/aplasia 2MIM #615721

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)

—

P/LP submissions

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P/LP missense

0.54

LOEUF

GOF

Mechanism· predicted