Gene: ALOX12B

Alternate names for this Gene: 12R-LOX|ARCI2

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.

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.1

Description of this Gene: arachidonate 12-lipoxygenase, 12R type

Type of Gene: protein-coding

rs137853023 in ALOX12B gene and ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2 PMID 19890349 2010 Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.

PMID 15629692 2005 Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3.

PMID 19131948 2009 Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.

PMID 16116617 2005 Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.

PMID 11773004 2002 Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

PMID 26762237 2016 Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis.

PMID 17139268 2007 Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.

PMID 20222929 2010 Partially disturbed lamellar granule secretion in mild congenital ichthyosiform erythroderma with ALOX12B mutations.