Protein: LOXL1_HUMAN
Lysyl oxidase homolog 1
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.
PTM: 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.
DISEASE: Genetic variations in LOXL1 are a cause of susceptibility to exfoliation syndrome (XFS) [MIM:177650]; also called exfoliation glaucoma (XFG). XFS is 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=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.
SIMILARITY: Belongs to the lysyl oxidase family.
GENE SYNONYMS: LOXL.
COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
Organism:
- Homo sapiens
Gene Symbol:
- LOXL1
Synonyms:
- 1.4.3.-
- Lysyl oxidase-like protein 1
- LOL
Stable Link:
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FUNCTION: Active on elastin and collagen substrates (By similarity). COFACTOR: Copper (By similarity). COFACTOR: Contains 1 lysine tyrosylquinone (By similarity). more...