BC015090
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Homo sapiens lysyl oxidase-like 1, mRNA
NCBI Official Synonym Full Names
lysyl oxidase-like 1
NCBI Official Synonym Symbols
NCBI Protein Information
lysyl oxidase homolog 1; lysyl oxidase-like protein 1
UniProt Protein Name
Lysyl oxidase homolog 1
UniProt Synonym Protein Names
Lysyl oxidase-like protein 1
UniProt Synonym Gene Names
UniProt Entry Name
LOXL1_HUMAN
NCBI Summary for LOXL1
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 Comments for LOXL1
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.
Product References and Citations for LOXL1 recombinant protein
1. Hewitt, A. W.et.al: Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people. Hum. Molec. Genet. 17: 710-716, 2008. 2. Liu, X. et.al: Elastic fiber homeostasis requires lysyl oxidase-like 1 protein. Nature Genet. 36: 178-182, 2004.
Research Articles on LOXL1
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with LOXL1 recombinant protein
Pathways associated with LOXL1 recombinant protein
Diseases associated with LOXL1 recombinant protein
Organs/Tissues associated with LOXL1 recombinant protein
|