Property Summary

NCBI Gene PubMed Count 33
PubMed Score 22.38
PubTator Score 33.19

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 2.200 3.8e-93

Gene RIF (24)

PMID Text
24021977 This review covers the background to discovery of the two key lipoxygenases (LOX) involved in epidermal barrier function, 12R-LOX and eLOX3. [review]
23954555 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. [review]
23621129 We found that the contribution of the ALOX12B gene to the pathogenesis of Autosomal Recessive Congenital Ichthyosis to be as important as that of TGM1 in families of Arab Muslim origin
22622417 Autosomal recessive congenital ichthyosis patients with NIPAL4 mutations and abnormal ichthyin expression showed increased 12R-LOX and eLOX-3 staining and a colocalization signal of these LOXs that was three times the normal intensity.
22441738 It was shown that 12R-lipoxygenase is involved in MUC5AC expression via ERK- and Sp1-signalling pathways.
21821891 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
20438785 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20406964 Observational study of gene-disease association. (HuGE Navigator)
19890349 ALOX12B mutations are the leading cause of self-improving collodion ichthyosis in Scandinavia, followed by ALOXE3 mutations, and TGM1 mutations
19558494 12-R-LOX and COX-2 play critical roles in the regulation of growth in epidermoid carcinoma
19423540 Observational study of gene-disease association. (HuGE Navigator)
19372141 Observational study of gene-disease association. (HuGE Navigator)
19131948 mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B may have roles in autosomal recessive congenital ichthyosis
19131948 Observational study of gene-disease association. (HuGE Navigator)
19064572 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19023099 Observational study of gene-disease association. (HuGE Navigator)
18347291 clinical & molecular features of 2 cases of self-healing collodion phenotype that developed mild ichthyosiform erythroderma; both patients were compound heterozygous for novel ALOX12B mutations
18086569 presented a novel form of ichthyosis in a patient, termed hepoxilin A(3) synthase-linked ichthyosis (HXALI), whose scales expressed high levels of 12R-LOX, but were deficient of HXA(3) synthase [hepoxilin A3 synthase]
17975119 Observational study of gene-disease association. (HuGE Navigator)
17436029 Formation of a ligand for the nuclear receptor PPARalpha may be one possibility by which 12R-LOX and eLOX3 contribute to epidermal differentiation.
17139268 Our data contribute to an enlargement of the spectrum of mutations for the development of efficient molecular genetic tests for analysis of at risk individuals whose carrier status is unknown.
15629692 12R-LOX hydrolase functions in the normal process of skin differentiation, and that the loss of function mutations are the basis of the LOX-dependent form of Non-bullous congenital ichthyosiform erythroderma.
12664578 Isoenzyme is characterized.
11773004 Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.

AA Sequence

MATYKVRVATGTDLLSGTRDSISLTIVGTQGESHKQLLNHFGRDFATGAVGQYTVQCPQDLGELIIIRLH      1 - 70
KERYAFFPKDPWYCNYVQICAPNGRIYHFPAYQWMDGYETLALREATGKTTADDSLPVLLEHRKEEIRAK     71 - 140
QDFYHWRVFLPGLPSYVHIPSYRPPVRRHRNPNRPEWNGYIPGFPILINFKATKFLNLNLRYSFLKTASF    141 - 210
FVRLGPMALAFKVRGLLDCKHSWKRLKDIRKIFPGKKSVVSEYVAEHWAEDTFFGYQYLNGVNPGLIRRC    211 - 280
TRIPDKFPVTDDMVAPFLGEGTCLQAELEKGNIYLADYRIMEGIPTVELSGRKQHHCAPLCLLHFGPEGK    281 - 350
MMPIAIQLSQTPGPDCPIFLPSDSEWDWLLAKTWVRYAEFYSHEAIAHLLETHLIAEAFCLALLRNLPMC    351 - 420
HPLYKLLIPHTRYTVQINSIGRAVLLNEGGLSAKGMSLGVEGFAGVMVRALSELTYDSLYLPNDFVERGV    421 - 490
QDLPGYYYRDDSLAVWNALEKYVTEIITYYYPSDAAVEGDPELQSWVQEIFKECLLGRESSGFPRCLRTV    491 - 560
PELIRYVTIVIYTCSAKHAAVNTGQMEFTAWMPNFPASMRNPPIQTKGLTTLETFMDTLPDVKTTCITLL    561 - 630
VLWTLSREPDDRRPLGHFPDIHFVEEAPRRSIEAFRQRLNQISHDIRQRNKCLPIPYYYLDPVLIENSIS    631 - 700
I//

Text Mined References (33)

PMID Year Title
24021977 2014 The importance of the lipoxygenase-hepoxilin pathway in the mammalian epidermal barrier.
23954555 2014 The role of lipoxygenases in epidermis.
23621129 2013 Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population.
22622417 2012 The expression of epidermal lipoxygenases and transglutaminase-1 is perturbed by NIPAL4 mutations: indications of a common metabolic pathway essential for skin barrier homeostasis.
22441738 2012 A role for 12R-lipoxygenase in MUC5AC expression by respiratory epithelial cells.
21821891 2011 Cloning, expression, purification, crystallization and preliminary X-ray diffraction studies of a 12R-LOX-chaperone complex.
21558561 2011 Lipoxygenases mediate the effect of essential fatty acid in skin barrier formation: a proposed role in releasing omega-hydroxyceramide for construction of the corneocyte lipid envelope.
20438785 2010 Polymorphisms in innate immunity genes and risk of childhood leukemia.
20406964 2010 Risk of meningioma and common variation in genes related to innate immunity.
19890349 2010 Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.
19558494 2009 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.
19423540 2009 Common variation in genes related to innate immunity and risk of adult glioma.
19372141 2009 Candidate gene approach evaluates association between innate immunity genes and breast cancer risk in Korean women.
19131948 2009 Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B.
19064572 2008 Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women.
19023099 2009 Gene variants associated with ischemic stroke: the cardiovascular health study.
18347291 2008 Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene.
18086569 2008 Hepoxilin A3 (HXA3) synthase deficiency is causative of a novel ichthyosis form.
17975119 2008 Association of gene variants with incident myocardial infarction in the Cardiovascular Health Study.
17436029 2007 Epidermal lipoxygenase products of the hepoxilin pathway selectively activate the nuclear receptor PPARalpha.
17139268 2007 Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.
16116617 2005 Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis.
15629692 2005 Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12664578 2002 Characterization of epidermal 12(S) and 12(R) lipoxygenases.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11773004 2002 Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.
11368351 2001 Detection and cellular localization of 12R-lipoxygenase in human tonsils.
11350124 2001 A gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: cloning, physical mapping, and expression.
10727209 2000 Identification of 12-lipoxygenase interaction with cellular proteins by yeast two-hybrid screening.
9837935 1998 Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment.
9618483 1998 A 12R-lipoxygenase in human skin: mechanistic evidence, molecular cloning, and expression.