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.
Function:
Responsible for the post-translational oxidative deamination of peptidyl lysine residues in precursors to fibrous collagen and elastin. In addition to cross-linking of extracellular matrix proteins, may have a direct role in tumor suppression.
Subcellular Location:
Secreted; extracellular space
Tissue Specificity:
Heart, placenta, skeletal muscle, kidney, lung and pancreas.
Post-translational modifications:
The lysine tyrosylquinone cross-link (LTQ) is generated by condensation of the epsilon-amino group of a lysine with a topaquinone produced by oxidation of tyrosine.
Proteolytically activated by BMP1 (By similarity).
Similarity:
Belongs to the lysyl oxidase family.
SWISS:
P28300
Gene ID:
4015
Database links:
Entrez Gene: 396474 Chicken
Entrez Gene: 4015 Human
Entrez Gene: 16948 Mouse
Entrez Gene: 24914 Rat
Omim: 153455 Human
SwissProt: Q05063 Chicken
SwissProt: P28300 Human
SwissProt: P28301 Mouse
SwissProt: P16636 Rat
Unigene: 102267 Human
Unigene: 172 Mouse
Unigene: 11372 Rat
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