EMILIN1

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Description

The EMILIN1 (elastin microfibril interfacer 1) is a protein-coding gene located on chromosome 2.

Elastin microfibril interfacer 1 (EMILIN-1) is a protein encoded by the EMILIN1 gene in humans. It's a prominent member of the EMILIN family, a group of extracellular matrix glycoproteins.

EMILIN-1 plays a crucial role in connecting smooth muscle cells to elastic fibers, contributing to the formation of elastic fibers and influencing vessel development. It exhibits cell adhesion properties.

EMILIN1 is also known as EMI, EMILIN, HMN10, HMND10, gp115.

Associated Diseases

• Neuronopathy, distal hereditary motor, type X