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Scientific Background: LOXL1 is a member of the lysyl oxidase gene family which is essential to the biogenesis of connective tissue. LOXL1 encodes an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. LOXL1 is responsible for catalyzing the oxidative deamination of lysine residues of tropoelastin and this deamination causes spontaneous cross-linking and formation of elastin polymer fibers (1). LOXL1 serves both as a crosslinking enzyme and an element of the scaffold to ensure spatially defined deposition of elastin (2).
2. Liu, X. et.al: Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. Nature Genet. 36: 178-182, 2004.
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. [provided by RefSeq, Jul 2008]
Uniprot Description
Function: Active on elastin and collagen substrates
By similarity.
Cofactor: Copper
By similarity.Contains 1 lysine tyrosylquinone
By similarity.
Subcellular location: Secreted › extracellular space
Potential.
Tissue specificity: Expressed in ocular tissues including the iris, ciliary body, lens and optic nerve. Not detected in the retina. Ref.7
Post-translational modification: 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.
Involvement in disease: Exfoliation syndrome (XFS) [MIM:177650]: A disorder characterized by accumulation of abnormal fibrillar deposits in the anterior segment of the eye. In addition to being a cause of glaucoma and glaucomatous optic neuropathy, exfoliation syndrome has also been associated with lens zonule weakness, cataract formation, and systemic vascular complications due to deposition of exfoliation material in extraocular tissues.Note: Disease susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to exfoliation syndrome is conferred by a risk haplotype that includes two LOXL1 coding non-synonymous SNPs (Arg141Leu and Gly153Asp) and one intronic SNP. Arg141Leu and Gly153Asp are sufficient to confer disease susceptibility in some populations. Ref.6
Sequence similarities: Belongs to the lysyl oxidase family.
Research Articles on LOXL1
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Product Notes
The LOXL1 loxl1 (Catalog #AAA515307) is a Recombinant Protein produced from Sf9 insect cells and is intended for research purposes only. The product is available for immediate purchase. The tag for this protein is GST tag!!Expression System||Sf9 insect cells using baculovirus!!Source Note||Recombinant human LOXL1 (292-end) was expressed by baculovirus in Sf9 insect cells using an N-terminal GST tag. AAA Biotech's LOXL1 can be used in a range of immunoassay formats including, but not limited to, Western Blot (WB). Researchers should empirically determine the suitability of the LOXL1 loxl1 for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "LOXL1, Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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