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FLASH GENE
Symbol LOXL1 contributors: shn/npt - updated : 10-12-2009
HGNC name lysyl oxidase-like 1
HGNC id 6665
ASSOCIATED DISORDERS
corresponding disease(s) XFS
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --low  
commonly silenced genes in human bladder cancer cells, and this silence is predominantly related to promoter methylation (Wu 2007)
Susceptibility to pseudoexfoliation (PEX) and pseudoexfoliation glaucoma (PEXG)
Variant & Polymorphism SNP LOXL1 SNPs are highly associated with exfoliation syndrome (XFS)
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • mice lacking the protein lysyl oxidase-like 1 (LOXL1) do not deposit normal elastic fibers in the uterine tract post partum and develop pelvic organ prolapse, enlarged airspaces of the lung, loose skin and vascular abnormalities with concomitant tropoelastin accumulation (Liu 2004)