ALOXE3
Arachidonate Lipoxygenase 3
Gene Information Card
| Symbol | ALOXE3 |
|---|---|
| Full Name | Arachidonate Lipoxygenase 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 59344 ncbi.nlm.nih.gov/gene/59344 |
| Ensembl ID | ENSG00000179115 |
| UniProt ID | Q9BYJ1 |
| OMIM ID | 607206 |
| HGNC ID | 13711 |
| Aliases | eLOX3, LOXE3 |
Description
ALOXE3 encodes a member of the lipoxygenase family, specifically an epidermal-type lipoxygenase (eLOX3). This enzyme is involved in the metabolism of polyunsaturated fatty acids, playing a critical role in the formation of the epidermal barrier. Mutations in ALOXE3 are associated with autosomal recessive congenital ichthyosis, particularly congenital ichthyosiform erythroderma (CIE).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive congenital ichthyosis (ARCI) | Loss-of-function mutations in ALOXE3 disrupt epidermal lipid metabolism, impairing the skin barrier. | ClinVar, OMIM |
| Congenital ichthyosiform erythroderma (CIE) | Specific missense and nonsense mutations lead to reduced or absent enzyme activity, causing abnormal keratinocyte differentiation. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Esophagus | 3.2 | Low |
| Lung | 0.8 | Not detected |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Keratinocytes | 15.0 | High expression |
| Fibroblasts | 0.5 | Low expression |
| Melanocytes | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.504G>A (p.Trp168*) | Nonsense | Rare | Loss of function; associated with ARCI |
| c.812T>C (p.Leu271Pro) | Missense | Rare | Reduced enzyme activity; associated with CIE |
| c.1444C>T (p.Arg482*) | Nonsense | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most ALOXE3 mutations result in loss of enzymatic activity, leading to impaired epidermal barrier formation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ALOXE3.
Dominant Negative (DN)
No dominant-negative effects have been described for ALOXE3 mutations.
View complete mutation data：
Gene Ontology (GO)
| • arachidonate 12-lipoxygenase activity | • arachidonate 15-lipoxygenase activity |
| • hepoxilin-epoxide hydrolase activity | • lipid metabolic process |
| • epidermis development | • oxidation-reduction process |
Pathways
• Arachidonic acid metabolism
• Linoleic acid metabolism
• Epidermal barrier formation
Protein Summary
ALOXE3 encodes eLOX3, a 711-amino acid protein that functions as a lipoxygenase and hepoxilin-epoxide hydrolase. It is primarily expressed in the epidermis and is essential for the synthesis of specialized lipids that form the skin barrier. The enzyme converts arachidonic acid and linoleic acid derivatives into hydroperoxy fatty acids, which are further processed to generate barrier lipids.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ALOXE3 Knockout HEK293 Cell Line | EDC07790 | Human | 59344 | Details Get a Quote |
| ALOXE3 Knockout A-549 Cell Line | EDJ-KQ41183 | Human | 59344 | Details Get a Quote |
| ALOXE3 Knockout HCT 116 Cell Line | EDJ-KQ41184 | Human | 59344 | Details Get a Quote |
| ALOXE3 Knockout HeLa Cell Line | EDJ-KQ56969 | Human | 59344 | Details Get a Quote |
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