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

rs12905253 in LOXL1 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs4337252 in LOXL1 gene and Body Height PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs2028386 in LOXL1 gene and Diverticular Diseases PMID 30177863 2018 Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.

rs12441138 in LOXL1 gene and Exfoliation Syndrome PMID 24938310 2014 Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.

PMID 25706626 2015 A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.

rs12440667 in LOXL1 gene and Glaucoma PMID 17690259 2007 Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

rs4337252 in LOXL1 gene and Height PMID 23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs4886782 in LOXL1 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs4886782 in LOXL1 gene and Smoking PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs4886782 in LOXL1 gene and Smoking Behaviors PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs1078967 in LOXL1 gene and Systolic Pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs4337252 in LOXL1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12440667 in LOXL1 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.