MFAP4


Description

The MFAP4 (microfibril associated protein 4) is a protein-coding gene located on chromosome 17.

MFAP4 (microfibril-associated glycoprotein 4) is an extracellular matrix protein encoded by the MFAP4 gene. It is part of the MFAP family of proteoglycans, which are involved in cell adhesion, intercellular interactions and the assembly and/or maintenance of elastic fibres. MFAP4 is known to co-localise at sites rich in elastic fibres and is thought to interact with several proteins including FBN1, FBN2, tropoelastin and desmosine. It has a relatively non-specific tissue expression pattern, with higher levels observed in organs such as the lungs and vasculature. Using MFAP4-deficient mouse models, studies have shown roles for MFAP4 in neointima formation and asthma. Moreover, it has recently been shown that the glycosylation of MFAP4 is raised in the aortic extracellular matrix of Marfan syndrome patients using proteomics and gene expression levels of MFAP4 correlate with alterations in extracellular matrix genes within human aortic vascular smooth muscle cells. MFAP4 has received considerable attention as a possible biomarker for many conditions including Marfan syndrome, surgical repair of abdominal aortic aneurysms, cardiovascular disease, COPD, liver fibrosis, and various cancers.

MFAP4 may contribute to calcium-dependent cell adhesion or intercellular interactions, and potentially plays a role in elastic fiber assembly and/or maintenance.

MFAP4 is also known as -.

Associated Diseases



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