The protein encoded by this gene is an extracellular
copper enzyme that initiates the crosslinking of collagens and
elastin. The enzyme catalyzes oxidative deamination of the
epsilon-amino group in certain lysine and hydroxylysine residues of
collagens and lysine residues of elastin. In addition to
crosslinking extracellular matrix proteins, the encoded protein may
have a role in tumor suppression. Defects in this gene are a cause
of autosomal recessive cutis laxa type I (CL type I). Two
transcript variants encoding different isoforms have been found for
this gene.
