MFAP4 Antibody (Clone AT12D11)

Several microfibril associated proteins (MFAPs) have been cloned, including MFAP1, MFAP3 and MFAP4. The MFAP1 and MFAP3 genes are localized near the fibrillin genes FBN1 and FBN2, respectively. Mutations in FBN1 are linked to Marfan syndrome. Mutations in FBN2 have been linked to congenital contractural arachnodactyly. This suggests roles for MFAP1 and MFAP3 in heritable diseases affecting microfibrils. Deletion of MFAP4 was found in 30 of 31 patients with Smith-Magenis syndrome (SMS), a clinically recognizable multiple congenital anomaly/mental retardation syndrome. Also, MFAP4 play an important role in calcium-dependent cell adhesion or intercellular interactions. These structural features of MFAP4 suggest that it is an extracellular matrix protein involved in cell adhesion or intercellular interactions.