Entity Details

Primary name ALOXE3
Entity type gene
Source Source Link

Details

PrimaryID59344
RefseqGeneNG_015807
SymbolALOXE3
Namearachidonate lipoxygenase 3
Chromosome17
Location17p13.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-12-01
ModificationDate2021-06-20

Ontological Relatives

UniProt IDsLOXE3_HUMAN

GO terms

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GOName
GO:0005506 iron ion binding
GO:0005829 cytosol
GO:0006665 sphingolipid metabolic process
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
GO:0019233 sensory perception of pain
GO:0019369 arachidonic acid metabolic process
GO:0019372 lipoxygenase pathway
GO:0035357 peroxisome proliferator activated receptor signaling pathway
GO:0043651 linoleic acid metabolic process
GO:0045444 fat cell differentiation
GO:0046513 ceramide biosynthetic process
GO:0050486 intramolecular transferase activity, transferring hydroxy groups
GO:0051120 hepoxilin A3 synthase activity
GO:0051122 hepoxilin biosynthetic process
GO:0061436 establishment of skin barrier
GO:0106255 hydroperoxy icosatetraenoate isomerase activity
GO:0106256 hydroperoxy icosatetraenoate dehydratase activity

Diseases

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Disease IDSourceNameDescription
606545 OMIMIchthyosis, congenital, autosomal recessive 3 (ARCI3)A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. The disease is caused by variants affecting the gene represented in this entry.