HGFAC

Chr 4

HGF activator

Also known as: HGFA

NCBI Gene: 3083 ENSG00000109758 UniProt: Q04756

The protein is a serine protease that activates hepatocyte growth factor by converting it from an inactive precursor to its active form, initiating hepatocyte growth factor receptor signaling. Mutations cause autosomal recessive congenital factor XII deficiency, which presents as a bleeding disorder. The gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the peptidase S1 protein family. The encoded protein is first synthesized as an inactive single-chain precursor before being activated to a heterodimeric form by endoproteolytic processing. It acts as serine protease that converts hepatocyte growth factor to the active form. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.87

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)