FBLN1

Chr 22

fibulin 1

Also known as: FBLN, FIBL1

NCBI Gene: 2192 ENSG00000077942 UniProt: P23142 OMIM: 135820

Fibulin 1 is a secreted glycoprotein that incorporates into the extracellular matrix and binds to laminin, nidogen, and fibrinogen to facilitate cell adhesion and migration. Mutations cause synpolydactyly 3, an autosomal dominant limb malformation characterized by complete syndactyly between the third and fourth fingers and partial syndactyly of the fourth and fifth toes, with additional polydactyly. This gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]

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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

LOF

Mechanism· predicted