The protein encoded by this gene is an extracellularcopper enzyme that initiates the crosslinking of collagens andelastin. The enzyme catalyzes oxidative deamination of theepsilon-amino group in certain lysine and hydroxylysine residues ofcollagens and lysine residues of elastin. In addition tocrosslinking extracellular matrix proteins, the encoded protein mayhave a role in tumor suppression. Defects in this gene are a causeof autosomal recessive cutis laxa type I (CL type I). Twotranscript variants encoding different isoforms have been found forthis gene.
Pathway
Assembly of collagen fibrils and other multimeric structures; Collagen formation; Crosslinking of collagen fibrils; Elastic fibre formation; Extracellular matrix organization
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