Mannan-binding lectin the body. It is produced in the liver as a response to infection, and is part of many other factors termed acute phase proteins. Expression and function in other organs were also suggested. The three structural polymorphisms of exon 1 have been reported to cause susceptibility to various common infections, including meningococcal disease. However, evidence has been presented that suggests no harmful effect of these variants with regard to mengingococcal disease. Mannan-binding lectin Mannose-binding lectin (MBL), also called mannose-binding protein or mannan-binding protein (MBP), is a lectin that is instrumental in innate immunity via the lectin pathway. MBL has an
Elastin glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Multiple transcript variants encoding different isoforms have been found for this gene. Elastin's soluble precursor is tropoelastin. The characterization of disorder is consistent with an entropy-driven mechanism of elastic recoil. It is concluded that conformational disorder is a constitutive feature of elastin structure and function. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and the autosomal dominant cutis laxa. Other associated defects in elastin include Marfan syndrome, emphysema caused by α-antitrypsin deficiency, atherosclerosis, Buschke-Ollendorff syndrome, Menkes syndrome, pseudoxanthoma elasticum, and Williams