MUTATION: MFAP5

DISORDER NAME: MFAP5

CLASSIFICATION: Non-syndromic FTAAD

MOLECULAR PATHWAY: Extra cellular matrix (ECM)

features

MFAP5 encodes microfibrillar-associated glycoprotein 2 (MAGP-2, is a component of fibrillin containing microfibrils in the ECM)

• Thoracic Aortic Aneurysm and Dissection (TAAD)
• Mild Marfan-like skeletal features (Barbier et al 2014)