ALOX12B Gene Summary
This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Sep 2015]
Details
| Type | Protein Coding |
| Official Symbol | ALOX12B |
| Official Name | arachidonate 12-lipoxygenase, 12R type [Source:HGNC Symbol;Acc:HGNC:430] |
| Ensembl ID | ENSG00000179477 |
| Bio databases IDs | |
| Aliases | arachidonate 12-lipoxygenase, 12R type, 12R-lipoxygenase |
| Synonyms | (12R)-lox,12R-LOX,ALOXB12,Aloxe2,arachidonate 12-lipoxygenase, 12R type,ARCI2,e-LOX2 |
| Species | Human, Homo sapiens |
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 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipoxygenase
- arachidonate 12-lipoxygenase
- PLAT
- arachidonate 8-lipoxygenase
- enzyme
- single donor 2 atom incorporation:oxygen oxidoreductase
- Lipoxygenase homology 2 (beta barrel) domain
Pathways
Biological processes and signaling networks where the ALOX12B gene plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive congenital ichthyosis type 2
- psoriasis
- skin barrier defect
- lamellar ichthyosis
- autosomal recessive ichthyosis
- plasma cell myeloma
- ichthyosis
- leukoencephalopathy, brain calcifications, and cysts
- dermatological disorder
regulates
- hepoxilin B3
- arachidonic acid
- omega-O-acylceramide
- FLG
- ceramide
- omega-O-acylphytoceramide
- prostaglandin E2
- methyl linoleate
- lipid
- hepoxilin
role in cell
- formation in
- fragility
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- intracellular membrane-bounded organelle
- perinuclear region
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the ALOX12B gene, providing context for its role in the cell.
biological PROCESS
Functions and activities the gene product is involved in
- lipid oxidation
- linoleic acid metabolic process
- protein lipidation
- ceramide biosynthetic process
- positive regulation of MAPK cascade
- establishment of skin barrier
- sphingolipid metabolic process
- hepoxilin biosynthetic process
- lipoxygenase pathway
- positive regulation of gene expression
- positive regulation of mucus secretion
- arachidonic acid metabolic process
cellular COMPONENT
Where in the cell the gene product is active
- perinuclear region of cytoplasm
- intracellular membrane-bounded organelle
- cytosol
molecular FUNCTION
What the gene product does at the molecular level
- oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
- iron ion binding
- arachidonate 12-lipoxygenase activity
- lyase activity
- arachidonate 8-lipoxygenase activity
- isomerase activity