Entity Details

Primary name ALOX12B
Entity type gene
Source Source Link

Details

PrimaryID242
RefseqGeneNG_007099
SymbolALOX12B
Namearachidonate 12-lipoxygenase, 12R type
Chromosome17
Location17p13.1
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1998-07-23
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsLX12B_HUMAN

GO terms

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GOName
GO:0004052 arachidonate 12(S)-lipoxygenase activity
GO:0005506 iron ion binding
GO:0005829 cytosol
GO:0006497 protein lipidation
GO:0006665 sphingolipid metabolic process
GO:0010628 positive regulation of gene expression
GO:0016702 oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen
GO:0016829 lyase activity
GO:0016853 isomerase activity
GO:0019369 arachidonic acid metabolic process
GO:0019372 lipoxygenase pathway
GO:0034440 lipid oxidation
GO:0043410 positive regulation of MAPK cascade
GO:0043651 linoleic acid metabolic process
GO:0046513 ceramide biosynthetic process
GO:0047677 arachidonate 8(R)-lipoxygenase activity
GO:0048471 perinuclear region of cytoplasm
GO:0051122 hepoxilin biosynthetic process
GO:0061436 establishment of skin barrier
GO:0070257 positive regulation of mucus secretion
GO:1990136 linoleate 9S-lipoxygenase activity

Diseases

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Disease IDSourceNameDescription
242100 OMIMIchthyosis, congenital, autosomal recessive 2 (ARCI2)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.