VEGFC

Chr 4AD

vascular endothelial growth factor C

Also known as: Flt4-L, LMPH1D, LMPHM4, VRP

NCBI Gene: 7424 ENSG00000150630 UniProt: P49767 OMIM: 601528

The protein is a growth factor that promotes angiogenesis and endothelial cell growth by binding and activating VEGFR-2 and VEGFR-3 receptors, playing a critical role in venous and lymphatic vascular system development during embryogenesis. Mutations cause lymphatic malformation 4, inherited in an autosomal dominant pattern. The gene shows high constraint against loss-of-function variants (LOEUF 0.478), indicating intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the platelet-derived growth factor/vascular endothelial growth factor (PDGF/VEGF) family. The encoded protein promotes angiogenesis and endothelial cell growth, and can also affect the permeability of blood vessels. The proprotein is further cleaved into a fully processed form that can bind and activate VEGFR-2 and VEGFR-3 receptors. [provided by RefSeq, Apr 2014]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Lymphatic malformation 4MIM #615907

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

118

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

LOF

Mechanism· predicted