LOXL4 Gene: Lysyl Oxidase Like 4
A member of the lysyl oxidase family involved in extracellular matrix remodeling and cancer progression
Gene Information Card
| Symbol | LOXL4 |
|---|---|
| Full Name | Lysyl Oxidase Like 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q24.2 |
| NCBI Gene ID | 84171 ncbi.nlm.nih.gov/gene/84171 |
| Ensembl ID | ENSG00000138131 |
| UniProt ID | Q96JB6 |
| OMIM ID | 607318 |
| HGNC ID | 13846 |
| Aliases | LOXC, lysyl oxidase-like 4 |
Description
LOXL4 encodes a member of the lysyl oxidase family of copper-dependent amine oxidases. These enzymes catalyze the cross-linking of collagen and elastin in the extracellular matrix, playing a critical role in tissue remodeling, wound healing, and fibrosis. LOXL4 is also implicated in tumor progression and metastasis in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression promotes invasion and metastasis | PMID: 23455423 |
| Colorectal cancer | Upregulation associated with poor prognosis | PMID: 25645678 |
| Head and neck squamous cell carcinoma | Hypermethylation leads to silencing | PMID: 18362356 |
| Liver fibrosis | Increased expression contributes to collagen cross-linking | PMID: 21559462 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 3.2 | Low |
| Liver | 1.8 | Low |
| Lung | 4.5 | Medium |
| Placenta | 6.1 | Medium |
| Skeletal muscle | 2.0 | Low |
| Skin | 8.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 5.3 | Moderate expression |
| HepG2 (liver cancer) | 2.1 | Low expression |
| A549 (lung cancer) | 7.8 | High expression |
| HaCaT (keratinocyte) | 9.4 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | Rare | Unknown functional impact |
| c.1456G>A (p.Gly486Ser) | Missense | Rare | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may reduce enzyme activity, affecting collagen cross-linking.
Gain of Function (GOF)
Not well documented; overexpression in tumors suggests possible gain-of-function in cancer.
Dominant Negative (DN)
No evidence currently available.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005507 – copper ion binding | • GO:0004720 – protein-lysine 6-oxidase activity |
| • GO:0005576 – extracellular region | • GO:0005615 – extracellular space |
| • GO:0016491 – oxidoreductase activity | • GO:0030198 – extracellular matrix organization |
Pathways
• Lysyl oxidase pathway (Reactome: R-HSA-2243919)
• Collagen biosynthesis and modifying enzymes (Reactome: R-HSA-1650814)
• Extracellular matrix organization (Reactome: R-HSA-1474244)
Protein Summary
LOXL4 is a 793-amino acid protein with a signal peptide, propeptide region, and a conserved lysyl oxidase catalytic domain. It is secreted and localizes to the extracellular matrix, where it oxidizes lysine residues in collagen and elastin, initiating cross-linking. The protein requires copper and the cofactor lysine tyrosylquinone for activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LOXL4 Knockout HEK293 Cell Line | EDJ-KQ10000 | Human | 84171 | Details Get a Quote |
| LOXL4 Knockout A-549 Cell Line | EDJ-KQ36964 | Human | 84171 | Details Get a Quote |
| LOXL4 Knockout HCT 116 Cell Line | EDJ-KQ36965 | Human | 84171 | Details Get a Quote |
| LOXL4 Knockout HeLa Cell Line | EDJ-KQ36966 | Human | 84171 | Details Get a Quote |
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