LOXL1 gene

lysyl oxidase like 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a member of the lysyl oxidase family of proteins. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyzes the first step in the formation of crosslinks in collagen and elastin. The encoded preproprotein is proteolytically processed to generate the mature enzyme. 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. Mutations in this gene are associated with exfoliation syndrome. [provided by RefSeq, Jan 2016]

From UniProt:

Active on elastin and collagen substrates.

From NCBI Gene:

  • Pseudoexfoliation glaucoma

From UniProt:

Exfoliation syndrome (XFS): 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. [MIM:177650]

Cytogenetic Location: 15q22, which is the long (q) arm of chromosome 15 at position 22

Molecular Location: base pairs 73,926,451 to 73,952,141 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q22, which is the long (q) arm of chromosome 15 at position 22
  • LOL
  • LOXL