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Arachidonate 12-lipoxygenase, 12R type

ALOX12B, 12R-LOX, 12R-lipoxygenase
This gene encodes an enzyme involved in the converstion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid. Mutations in this gene are associated with nonbullous congenital ichthyosiform erythroderma. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: ALOXE3, lysyl oxidase, ACID, Transglutaminase, CAN
Papers on ALOX12B
Two Cases of Autosomal Recessive Congenital Ichthyosis due to CYP4F22 Mutations: Expanding the Genotype of Self-Healing Collodion Baby.
Torrelo et al., Madrid, Spain. In Pediatr Dermatol, Jan 2016
However, some cases showing ALOX12B and ALOXE3 gene mutations have also been reported.
The role of lipoxygenases in pathophysiology; new insights and future perspectives.
Okuyama et al., Tokyo, Japan. In Redox Biol, Dec 2015
12R-LOX can be found in the epithelial cells of the skin.
Update on autosomal recessive congenital ichthyosis: mRNA analysis using hair samples is a powerful tool for genetic diagnosis.
Akiyama et al., Nagoya, Japan. In J Dermatol Sci, Jul 2015
The known causative molecules underlying ARCI include ABCA12, TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22, PNPLA1, CERS3, and LIPN.
Autosomal recessive congenital ichthyoses in the Czech Republic.
Fajkusová et al., Brno, Czech Republic. In Br J Dermatol, Jun 2015
Nine genes have been identified to be causative of ARCI, including TGM1 (1,2) , ABCA12 (3) , NIPAL4 (4) , CYP4F22 (5) , ALOX12B, ALOXE3 (6) , PNPLA1 (7) , LIPN (8) , and CERS3 (9) .
Molecular and genetic properties of tumors associated with local immune cytolytic activity.
Hacohen et al., Cambridge, United States. In Cell, Feb 2015
Genetic amplifications were also associated with high cytolytic activity, including immunosuppressive factors such as PDL1/2 and ALOX12B/15B.
Leukotriene signaling in the extinct human subspecies Homo denisovan and Homo neanderthalensis. Structural and functional comparison with Homo sapiens.
Heydeck et al., Berlin, Germany. In Arch Biochem Biophys, 2015
For this study we extracted the nucleotide sequences of selected eicosanoid relevant genes (ALOX5, ALOX15, ALOX12, ALOX15B, ALOX12B, ALOXE3, COX1, COX2, LTA4H, LTC4S, ALOX5AP, CYSLTR1, CYSLTR2, BLTR1, BLTR2) from the corresponding databases.
A mouse organotypic tissue culture model for autosomal recessive congenital ichthyosis.
Krieg et al., Heidelberg, Germany. In Br J Dermatol, 2014
Mutations in the genes encoding the lipoxygenases 12R-LOX and eLOX-3 are the second most common cause of ARCIs.
The importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrier.
Brash et al., Nashville, United States. In Biochim Biophys Acta, 2014
This review covers the background to discovery of the two key lipoxygenases (LOX) involved in epidermal barrier function, 12R-LOX and eLOX3, and our current views on their functioning.
The role of lipoxygenases in epidermis.
Fürstenberger et al., Heidelberg, Germany. In Biochim Biophys Acta, 2014
Loss-of-function mutations in the LOX genes ALOX12B and ALOXE3 have been found to represent the second most common cause of autosomal recessive congenital ichthyosis and targeted disruption of the corresponding LOX genes in mice resulted in neonatal death due to a severely impaired permeability barrier function.
Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.
Sprecher et al., Tel Aviv-Yafo, Israel. In Clin Exp Dermatol, 2013
RESULTS: In total, 20 families with ARCI were assessed, and causative mutations were identified in 7 genes: TGM1 (30% of patients), ALOX12B (20%), ABCA12 (5%), CYP4F22 (10%), ALOXE3 (10%), LIPN (5%) and NIPAL4 (5%) Two families (10%) had mutations mapped to an ARCI-associated locus on 12p11.2-q13,
Phospho-ΔNp63α regulates AQP3, ALOX12B, CASP14 and CLDN1 expression through transcription and microRNA modulation.
Ratovitski, Baltimore, United States. In Febs Lett, 2013
Cisplatin-induced and ATM-phosphorylated (p)-ΔNp63α regulates the expression of epidermal differentiation and skin barrier regulators (AQP3, CASP14, ALOX12B, and CLDN1) in squamous cell carcinoma (SCC) cells by dual transcriptional and post-transcriptional mechanisms.
Lipoxygenase pathways in Homo neanderthalensis: functional comparison with Homo sapiens isoforms.
Horn et al., Berlin, Germany. In J Lipid Res, 2013
These data suggest that ALOX15, ALOX5, ALOX15B, and ALOX12B should have been present as functional enzymes in H. neanderthalensis and that in contrast to lower nonhuman primates (M.
Systematic analysis of rat 12/15-lipoxygenase enzymes reveals critical role for spinal eLOX3 hepoxilin synthase activity in inflammatory hyperalgesia.
Dennis et al., San Diego, United States. In Faseb J, 2013
Similar to human and mouse orthologs, proteins encoded by rat Alox12b and Alox12e possessed minimal 12-LOX activity with AA as substrate, while eLOX3 (encoded by Aloxe3) exhibited HXS without 12-LOX activity when coexpressed with Alox12b or supplemented with 12-HpETE.
Autosomal recessive congenital ichthyosis.
Toribio et al., Santiago de Compostela, Spain. In Actas Dermosifiliogr, 2013
ARCI is genetically highly heterogeneous and has been associated with 6 genes to date: TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22, and ABCA12.
Control of somatic tissue differentiation by the long non-coding RNA TINCR.
Khavari et al., Stanford, United States. In Nature, 2013
TINCR is required for high messenger RNA abundance of key differentiation genes, many of which are mutated in human skin diseases, including FLG, LOR, ALOXE3, ALOX12B, ABCA12, CASP14 and ELOVL3.
Cloning, expression, purification, crystallization and preliminary X-ray diffraction studies of a 12R-LOX-chaperone complex.
Ahvazi et al., Bethesda, United States. In Acta Crystallogr Sect F Struct Biol Cryst Commun, 2011
co-overproduction of the two chaperones with 12R-LOX resulted in increased solubility of 12R-LOX and allowed the purification of milligram amounts of active enzyme for structural studies by X-ray diffraction
Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.
Fischer et al., Uppsala, Sweden. In J Invest Dermatol, 2010
ALOX12B mutations are the leading cause of self-improving collodion ichthyosis in Scandinavia, followed by ALOXE3 mutations, and TGM1 mutations
Inhibition of 12-LOX and COX-2 reduces the proliferation of human epidermoid carcinoma cells (A431) by modulating the ERK and PI3K-Akt signalling pathways.
Reddanna et al., Hyderābād, India. In Exp Dermatol, 2009
12-R-LOX and COX-2 play critical roles in the regulation of growth in epidermoid carcinoma
Development of an ichthyosiform phenotype in Alox12b-deficient mouse skin transplants.
Krieg et al., Heidelberg, Germany. In J Invest Dermatol, 2009
Alox12b-deficient mouse skin transplants have an ichthyosiform phenotype
Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
Hennies et al., Köln, Germany. In J Invest Dermatol, 2009
mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B may have roles in autosomal recessive congenital ichthyosis
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