EMILIN1

EMILIN1 is a protein that in humans is encoded by the EMILIN1 gene. The protein encoded by this gene is an extracellular matrix glycoprotein that is characterized by an N-terminal cysteine-rich EGF-like domain and a C-terminal fibronectin type-3 domain. The encoded protein promotes elastogenesis in fibroblasts.<ref>

Entrez Gene: EMILIN1 elastin microfibril interfacer 1(link). {{{website}}}.

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Function

EMILIN1 is a component of the elastic fiber, a major component of the extracellular matrix that provides resilience and elasticity to tissues and organs. It is involved in the assembly and organization of elastic fibers during elastogenesis, the process of elastic fiber formation. It also plays a role in regulating cell proliferation and cell adhesion.

Clinical significance

Mutations in the EMILIN1 gene have been associated with supravalvular aortic stenosis, a heart condition characterized by narrowing of the aorta.

References

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External links

• NCBI Gene
• UniProt

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