LOXL1

LOXL1
Identifiers
Aliases	LOXL1, LOL, LOXL, lysyl oxidase like 1
External IDs	MGI: 106096 HomoloGene: 4074 GeneCards: LOXL1
Gene ontology Molecular function • oxidoreductase activity • copper ion binding • oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor • metal ion binding Cellular component • cytoplasm • extracellular matrix • proteinaceous extracellular matrix • extracellular region • basement membrane • acrosomal vesicle • extracellular space Biological process • protein deamination • aorta development • response to lipopolysaccharide • extracellular matrix organization • oxidation-reduction process Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	4016	16949
Ensembl	ENSG00000129038	ENSMUSG00000032334
UniProt	Q08397	P97873
RefSeq (mRNA)	NM_005576	NM_010729
RefSeq (protein)	NP_005567	NP_034859
Location (UCSC)	Chr 15: 73.93 – 73.95 Mb	Chr 9: 58.29 – 58.31 Mb
PubMed search

4016

16949

ENSG00000129038

ENSMUSG00000032334

Q08397

P97873

NM_005576

NM_010729

NP_005567

NP_034859

Lysyl oxidase homolog 1, also known as LOXL1, is an enzyme which in humans is encoded by the LOXL1 gene.

This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. 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.

Polymorphisms of the LOXL1 gene are associated with pseudoexfoliation syndrome, a disease where the extracellular matrix contains abnormal amounts of cross-linked, amyloid-like fibrillar material and glycoproteins. When this happens in the eye, exfoliation glaucoma results.

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Wikipedia