LEPREL2

Ideogram human chromosome 12

LEPREL2 LEPREL2 is a gene that encodes for the leprecan-like protein 2. This protein is involved in collagen biosynthesis and plays a crucial role in maintaining the structural integrity of various tissues in the body. Structure and Function The LEPREL2 gene is located on chromosome 3 in humans. It codes for a protein that belongs to the leprecan family, which are involved in collagen processing and maturation. LEPREL2 specifically functions as a collagen prolyl 3-hydroxylase. Collagen is a major component of the extracellular matrix and provides structural support to tissues such as skin, bones, and cartilage. The activity of LEPREL2 is essential for the proper formation and stability of collagen molecules. Clinical Significance Mutations in the LEPREL2 gene have been associated with certain genetic disorders affecting collagen synthesis. These disorders can lead to connective tissue abnormalities, such as Ehlers-Danlos syndrome, characterized by hypermobility of joints and fragile skin. Research is ongoing to further understand the role of LEPREL2 in collagen metabolism and its implications for human health. By elucidating the molecular mechanisms underlying collagen biosynthesis, scientists aim to develop targeted therapies for collagen-related disorders. References 1. Marini JC, Forlino A, Cabral WA, et al. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Hum Mutat. 2007;28(3):209-21.