MFAP3 (Microfibril Associated Protein 3) is a Protein Coding gene. The human gene encoding MFAP3 has a very simple structure, containing only two translated exons encoding a protein of 362 amino acids. The gene was found to be located on chromosome 5q32-q33.2, near the locus 5q21-q31 reported for the fibrillin gene, FBN2, which has been linked to congenital contractural arachnodactyly. MFAP3 is widely expressed in the placenta, urinary bladder, and other tissues. It does not appear to share homology with any other known protein. MFAP3 is a candidate gene for heritable diseases affecting microfibrils. Diseases associated with MFAP3 include Lutembacher's Syndrome and Postural Orthostatic Tachycardia Syndrome.
microfibrillar-associated protein 3