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FURIN

Chr 15q26.1

furin, paired basic amino acid cleaving enzyme

Aliases:
SPC1
MANE:
ENST00000268171.8
OMIM: 136950 ↗NCBI: 5045 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

  • COVID-19 research

    Unknown

Disease associations (Open Targets)

  • coronary artery disorder

    0.58

  • hypertensive disorder

    0.56

  • myocardial infarction

    0.54

  • myocardial ischemia

    0.53

  • COVID-19

    0.53

  • angina pectoris

    0.52

  • cardiovascular disorder

    0.52

  • essential hypertension

    0.50

  • heart disorder

    0.49

  • alcohol drinking

    0.49

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Furin

Ubiquitous endoprotease within constitutive secretory pathways capable of cleavage at the RX(K/R)R consensus motif (PubMed:11799113, PubMed:1629222, PubMed:1713771, PubMed:2251280, PubMed:24666235, PubMed:25974265, PubMed:7592877, PubMed:7690548, PubMed:9130696). Mediates processing of TGFB1, an essential step in TGF-beta-1 activation (PubMed:7737999). Converts through proteolytic cleavage the non-functional Brain natriuretic factor prohormone into its active hormone BNP(1-32) (PubMed:20489134, PubMed:21763278). By mediating processing of accessory subunit ATP6AP1/Ac45 of the V-ATPase, regulates the acidification of dense-core secretory granules in islets of Langerhans cells (By similarity)

Diseases associated with FURIN

Curated MONDO disease pages that list FURIN among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.