LOXL1 Gene: Lysyl Oxidase Like 1
Key player in elastic fiber formation and exfoliation syndrome
Gene Information Card
| Symbol | LOXL1 |
|---|---|
| Full Name | Lysyl Oxidase Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 4016 ncbi.nlm.nih.gov/gene/4016 |
| Ensembl ID | ENSG00000136155 |
| UniProt ID | Q08397 |
| OMIM ID | 153456 |
| HGNC ID | 6665 |
| Aliases | LOXL, LOL |
Description
LOXL1 encodes a member of the lysyl oxidase family of copper-dependent amine oxidases. The enzyme catalyzes the cross-linking of collagen and elastin in the extracellular matrix, essential for elastic fiber formation and tissue integrity. LOXL1 is highly expressed in ocular tissues and is strongly associated with exfoliation syndrome and exfoliation glaucoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Exfoliation syndrome (XFS) | LOXL1 risk variants (rs1048661, rs3825942) alter enzyme activity and elastic fiber assembly, leading to abnormal fibrillar deposits in the anterior eye. | OMIM 177650; GWAS studies (Thorleifsson et al. 2007, Science) |
| Exfoliation glaucoma (XFG) | Same variants increase susceptibility to elevated intraocular pressure and optic nerve damage due to exfoliation material accumulation. | ClinVar; multiple case-control studies |
| Pseudoexfoliation syndrome | LOXL1 missense variants impair lysyl oxidase function, reducing cross-linking and promoting aggregation of elastic microfibrils. | NCBI Gene; PubMed reviews |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Eye (ciliary body, lens, iris) | ~50 | High |
| Aorta | ~30 | Medium |
| Lung | ~25 | Medium |
| Skin | ~20 | Medium |
| Heart | ~15 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| ARPE-19 (retinal pigment epithelium) | ~40 | High expression; used in functional studies |
| HUVEC (umbilical vein endothelial) | ~20 | Moderate expression |
| HeLa | ~10 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1048661 (p.Arg141Leu) | Missense | ~50% in XFS cases | Reduced enzyme activity; risk allele for exfoliation syndrome |
| rs3825942 (p.Gly153Asp) | Missense | ~40% in XFS cases | Alters substrate binding; strong association with XFS |
| rs2165241 | Intronic | ~30% | Linked to LOXL1 expression regulation |
Mutation functional classification
Loss of Function (LOF)
rs1048661 (p.Arg141Leu) reduces catalytic activity, impairing elastin cross-linking.
Gain of Function (GOF)
Not reported for LOXL1.
Dominant Negative (DN)
rs3825942 (p.Gly153Asp) may interfere with normal LOXL1 dimerization, reducing overall function.
View complete mutation data：
Gene Ontology (GO)
| • protein-lysine 6-oxidase activity | • copper ion binding |
| • extracellular matrix organization | • elastin cross-linking |
| • collagen fibril organization |
Pathways
• Elastic fiber formation
• Lysyl oxidase pathway
• Extracellular matrix remodeling
Protein Summary
LOXL1 is a 574-amino acid copper-dependent amine oxidase secreted into the extracellular matrix. It catalyzes oxidative deamination of lysine residues in tropoelastin and collagen, initiating cross-linking essential for elastic fiber integrity. The protein contains a signal peptide, a propeptide region, and a catalytic domain with a copper-binding site and lysyl tyrosyl quinone cofactor. LOXL1 is critical for maintaining tissue elasticity in the eye, aorta, and skin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LOXL1 Knockout HEK293 Cell Line | EDJ-KQ5137 | Human | 4016 | Details Get a Quote |
| LOXL1 Knockout HCT 116 Cell Line | EDJ-KQ28100 | Human | 4016 | Details Get a Quote |
| LOXL1 Knockout HeLa Cell Line | EDJ-KQ28101 | Human | 4016 | Details Get a Quote |
| LOXL1 Knockout A-549 Cell Line | EDJ-KQ62281 | Human | 4016 | Details Get a Quote |
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