PLOD1 gene codes for lysyl hydroxylase, an enzyme involved in the stabilization of collagen. The enzyme catalyzes the hydroxylation of lysine residues in -Xaa-Lys-Gly- sequences within collagen, a process important for the collagen to cross-link, and form networks of strong collagen fibrils. A number of mutations have been identified in the PLOD1 gene that have been implicated in two major diseases: Ehlers-Danlos Syndrome, Kyphoscoliosis type, and Nevo Syndrome, both characterized by kyphosis, and hypotonia, among other clinical features.
