Fibulin proteins contribute to normal development of elastic fiber systems in various types of organs that require elasticity, such as vasculature, lung and skin. Fibulin-4, also known as EFEMP2 (EGF-containing fibulin-like extracellular matrix protein 2), MBP1 or UPH1 is a 443 amino acid secreted protein that contains six EGF-like calcium-binding domains and belongs to the fibulin family. Expressed ubiquitously with highest expression in heart, Fibulin-4 is essential for connective tissue development and elastic fiber formation, and may also play an important role in vascular patterning and collagen biosynthesis. Defects in the gene encoding Fibulin-4 are associated with autosomal recessive cutis laxa type I (CL type I), a connective tissue disorder that is inherited in both an autosomal dominant and an autosomal recessive manner and is characterized by inelastic tissue in all affected areas of the body.
Synonyms: EFEMP2, EGF containing fibulin like extracellular matrix protein 2, EGF-containing fibulin-like extracellular matrix protein 2, FBLN 4, FBLN4, FBLN4_HUMAN, FIBL 4, FIBL-4, FIBL4, Fibulin4, Fibulin-4, MBP 1, MBP1, Mutant p53 binding protein 1, Protein UPH1, UPH 1, UPH1, UPH1 protein.