RXYLT1
Description
RXYLT1, also known as the Lysyl Hydroxylase 1 gene, plays a crucial role in the biosynthesis of collagen, a fibrous protein that provides structural support to connective tissues throughout the body. RXYLT1 encodes an enzyme that catalyzes the hydroxylation of lysine residues in collagen precursor molecules. This hydroxylation process is essential for the formation of stable collagen fibrils, which are vital for the integrity of skin, bone, cartilage, tendons, and other tissues. Mutations in RXYLT1 can lead to a variety of connective tissue disorders.
Associated Diseases
- Ehlers-Danlos syndrome type VI (Kyphoscoliotic)
- Osteogenesis imperfecta type VII
- Epidermolysis bullosa
- Congenital contractural arachnodactyly
Did you know?
RXYLT1 mutations can cause a range of clinical presentations, from mild skin fragility to severe skeletal deformities, highlighting the importance of this gene in maintaining tissue integrity.
