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FLASH GENE

Symbol

LOXL1

contributors: shn/npt - updated : 10-12-2009

HGNC name	lysyl oxidase-like 1
HGNC id	6665

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

XFS

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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)