Gene: LOXL1-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 15

Location in Chromosome : 15q24.1

Description of this Gene: LOXL1 antisense RNA 1

Type of Gene: ncRNA

Gene: LOXL1

Alternate names for this Gene: LOL|LOXL

Gene Summary: 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q24.1

Description of this Gene: lysyl oxidase like 1

Type of Gene: protein-coding

rs1550437 in LOXL1-AS1;LOXL1 gene and Exfoliation Syndrome PMID 24938310 2014 Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.

PMID 29278698 2018 The overall risk prediction accuracy for PEXS, expressed by the area under the ROC curve (AUC) value, increased by 0.218, from 0.672 for LOXL1 rs2165241 alone to 0.89 when seven additional SNPs were included in the proposed 8-SNP prediction model.

rs1048661 in LOXL1-AS1;LOXL1 gene and Glaucoma PMID 17690259 2007 Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

rs2165241 in LOXL1-AS1;LOXL1 gene and Glaucoma, Open-Angle PMID 20835238 2010 Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.