LOXL3 Gene Summary [Human]
This gene encodes a lysyl oxidase, which likely functions as an amine oxidase and plays a role in the formation of crosslinks in collagens and elastin. Deletion of the related gene in mouse causes neonatal mortality with cleft palate, spine deformity, and defects in collagen organization. A mutation in this gene was found in a family with Stickler syndrome. [provided by RefSeq, Sep 2016]
Details
| Type | Protein Coding |
| Official Symbol | LOXL3 |
| Official Name | lysyl oxidase like 3 [Source:HGNC Symbol;Acc:HGNC:13869] |
| Ensembl ID | ENSG00000115318 |
| Bio databases IDs | |
| Aliases | lysyl oxidase like 3 |
| Synonyms | Lor2, LOXL, Loxl2, lysyl oxidase-like 3, MYP28 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LOXL3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Scavenger receptor cysteine-rich domain
- protein-lysine 6-oxidase
- enzyme
- protein binding
- Lysyl oxidase
- fibronectin binding
- Scavenger receptor Cys-rich
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- cancer
- hereditary arthro-ophthalmopathy
- metastasis
- Dupuytren contracture
- autosomal recessive myopia type 28
- melanoma cancer
- 3-methylglutaconic aciduria type 8
- germ cell cancer
- cleft palate
role in cell
- expression in
- growth
- migration
- invasion by
- organization
- oxaliplatin sensitivity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- extracellular vesicles
- Cytoplasm
- Nucleus
- perinuclear space
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LOXL3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of T-helper 17 cell lineage commitment
- inflammatory response
- negative regulation of transcription, DNA-dependent
- somite development
- palate development
- peptidyl-lysine oxidation
- epithelial to mesenchymal transition
- collagen fibril organization
- positive regulation of integrin-mediated signaling pathway
- spinal cord development
- lung development
Cellular Component
Where in the cell the gene product is active
- nucleus
- extracellular space
- cytoplasm
- membrane
- extracellular region
Molecular Function
What the gene product does at the molecular level
- protein binding
- copper ion binding
- fibronectin binding
- protein-lysine 6-oxidase activity