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MGP001832

UniProt Annotations

Entry Information
Gene Namelysyl oxidase-like 1
Protein EntryLOXL1_HUMAN
UniProt IDQ08397
SpeciesHuman
Comments
Comment typeDescription
CofactorName=Cu cation; Xref=ChEBI:CHEBI:23378; Evidence={ECO:0000250};
CofactorName=lysine tyrosylquinone residue; Xref=ChEBI:CHEBI:20489; Evidence={ECO:0000250}; Note=Contains 1 lysine tyrosylquinone. {ECO:0000250};
DiseaseExfoliation 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. {ECO:0000269|PubMed:18037624, ECO:0000269|PubMed:19343041}. 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.
FunctionActive on elastin and collagen substrates. {ECO:0000250}.
PtmThe 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.
SimilarityBelongs to the lysyl oxidase family. {ECO:0000305}.
Subcellular LocationSecreted, extracellular space {ECO:0000305}.
Tissue SpecificityExpressed in ocular tissues including the iris, ciliary body, lens and optic nerve. Not detected in the retina. {ECO:0000269|PubMed:18037624}.
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