Recombinant Human Arachidonate 12-lipoxygenase, 12R-type (ALOX12B)

1. The rare homozygous ALOX12B mutation found in Patient 5 causes a change in a conserved residue; Leu315 into a proline in the catalytic domain of 12R-LOX. PMID: 28236338
2. report adds information on the clinical picture of autosomal recessive congenital ichthyosis caused by ALOX12B mutations PMID: 26575587
3. 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 PMID: 23621129
4. 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] PMID: 23954555
5. This review covers the background to discovery of the two key lipoxygenases (LOX) involved in epidermal barrier function, 12R-LOX and eLOX3. [review] PMID: 24021977
6. 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. PMID: 22622417
7. It was shown that 12R-lipoxygenase is involved in MUC5AC expression via ERK- and Sp1-signalling pathways. PMID: 22441738
8. 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 PMID: 21821891
9. ALOX12B mutations are the leading cause of self-improving collodion ichthyosis in Scandinavia, followed by ALOXE3 mutations, and TGM1 mutations PMID: 19890349
10. 12-R-LOX and COX-2 play critical roles in the regulation of growth in epidermoid carcinoma PMID: 19558494
11. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. PMID: 11773004
12. 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. PMID: 15629692
13. 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. PMID: 17139268
14. Formation of a ligand for the nuclear receptor PPARalpha may be one possibility by which 12R-LOX and eLOX3 contribute to epidermal differentiation. PMID: 17436029
15. 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 PMID: 18347291
16. mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B may have roles in autosomal recessive congenital ichthyosis PMID: 19131948

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HGNC: 430

OMIM: 242100

KEGG: hsa:242

STRING: 9606.ENSP00000315167

UniGene: Hs.136574