RGD Reference Report - Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. - Rat Genome Database

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Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

Authors: Jobard, F  Lefevre, C  Karaduman, A  Blanchet-Bardon, C  Emre, S  Weissenbach, J  Ozguc, M  Lathrop, M  Prud'homme, JF  Fischer, J 
Citation: Jobard F, etal., Hum Mol Genet. 2002 Jan 1;11(1):107-13.
RGD ID: 1599073
Pubmed: PMID:11773004   (View Abstract at PubMed)

We report the identification of mutations in lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) genes in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17. Linkage disequilibrium analysis of six families affected by NCIE permitted us to reduce a recently reported interval of 8.4 cM on chromosome 17p13.1 to a 600 kb region around the marker D17S1796, which contains LOX genes. LOX products have long been implicated in skin disorders. Two point mutations and one deletion were found in ALOXE3 and three point mutations were found in ALOX12B in these consanguineous families from the Mediterranean basin. ALOXE3 and ALOX12B are two genes which are physically linked and functionally related. They are separated by 38 kb, have one more exon than the other LOX genes and are mainly expressed in epithelial cells including keratinocytes. Although the main substrate(s) of the two enzymes is (are) still unknown, the products of ALOX12B obtained in experimental systems have been demonstrated to be of R-chirality. It seems likely that the product of one of these enzymes may be the substrate of the other, and that they belong to the same metabolic pathway.



RGD Manual Disease Annotations    Click to see Annotation Detail View
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
ALOXE3Humanautosomal recessive congenital ichthyosis 1 susceptibilityIAGP  RGD 
Aloxe3Ratautosomal recessive congenital ichthyosis 1 susceptibilityISOALOXE3 (Homo sapiens) RGD 
Aloxe3Mouseautosomal recessive congenital ichthyosis 1 susceptibilityISOALOXE3 (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Aloxe3  (arachidonate lipoxygenase 3)

Genes (Mus musculus)
Aloxe3  (arachidonate lipoxygenase 3)

Genes (Homo sapiens)
ALOXE3  (arachidonate lipoxygenase 3)


Additional Information