EMILIN1

Chr 2

elastin microfibril interfacer 1

Also known as: ATBFS, EMI, EMILIN, HMN10, HMND10, gp115

NCBI Gene: 11117 ENSG00000138080 UniProt: Q9Y6C2

The protein is involved in elastic and collagen fiber formation in the extracellular matrix and is required for collagen network assembly and cross-linking, particularly at the interface between elastin and microfibrils in blood vessels, skin, heart and lung. Mutations cause arterial tortuosity-bone fragility syndrome (autosomal recessive) and distal hereditary motor neuronopathy type 10 (autosomal dominant). The gene shows moderate constraint against loss-of-function variants, reflecting its importance in connective tissue and vascular development.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeuronopathy, distal hereditary motor, autosomal dominant 10

UniProtArterial tortuosity-bone fragility syndrome

Clinical highlights

Gene-disease validity (ClinGen)

arterial tortuosity-bone fragility syndrome · ARDefinitivesufficient evidence for diagnostic panels

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

—

P/LP missense

0.51

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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