ALOX12B
Arachidonate 12-lipoxygenase, 12R type, also known as ALOX12B, is an enzyme which in humans is encoded by the ALOX12B gene.[1][2][3]
Function
This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid.[2][3]
Clinical significance
Mutations in this gene are associated with nonbullous congenital ichthyosiform erythrodema.[4][5]
References
- ↑ "Entrez Gene: ALOX12B arachidonate 12-lipoxygenase, 12R type".
- ↑ 2.0 2.1 Boeglin WE, Kim RB, Brash AR (June 1998). "A 12R-lipoxygenase in human skin: mechanistic evidence, molecular cloning, and expression". Proc. Natl. Acad. Sci. U.S.A. 95 (12): 6744–9. doi:10.1073/pnas.95.12.6744. PMC 22619. PMID 9618483.
- ↑ 3.0 3.1 Sun D, McDonnell M, Chen XS, Lakkis MM, Li H, Isaacs SN, Elsea SH, Patel PI, Funk CD (December 1998). "Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment". J. Biol. Chem. 273 (50): 33540–7. doi:10.1074/jbc.273.50.33540. PMID 9837935.
- ↑ Jobard F, Lefèvre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, Ozgüc M, Lathrop M, Prud'homme JF, Fischer J (January 2002). "Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1". Hum. Mol. Genet. 11 (1): 107–13. doi:10.1093/hmg/11.1.107. PMID 11773004.
- ↑ Eckl KM, Krieg P, Küster W, Traupe H, André F, Wittstruck N, Fürstenberger G, Hennies HC (October 2005). "Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis". Hum. Mutat. 26 (4): 351–61. doi:10.1002/humu.20236. PMID 16116617.
Further reading
- Yu Z, Schneider C, Boeglin WE, Brash AR (2007). "Epidermal lipoxygenase products of the hepoxilin pathway selectively activate the nuclear receptor PPARalpha.". Lipids 42 (6): 491–7. doi:10.1007/s11745-007-3054-4. PMID 17436029.
- Lesueur F, Bouadjar B, Lefèvre C et al. (2007). "Novel mutations in ALOX12B in patients with autosomal recessive congenital ichthyosis and evidence for genetic heterogeneity on chromosome 17p13.". J. Invest. Dermatol. 127 (4): 829–34. doi:10.1038/sj.jid.5700640. PMID 17139268.
- Yu Z, Schneider C, Boeglin WE, Brash AR (2005). "Mutations associated with a congenital form of ichthyosis (NCIE) inactivate the epidermal lipoxygenases 12R-LOX and eLOX3.". Biochim. Biophys. Acta 1686 (3): 238–47. doi:10.1016/j.bbalip.2004.10.007. PMID 15629692.
- Gerhard DS, Wagner L, Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Ota T, Suzuki Y, Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- McDonnell M, Li H, Funk CD (2003). "Characterization of epidermal 12(S) and 12(R) lipoxygenases.". Adv. Exp. Med. Biol. 507: 147–53. PMID 12664578.
- Strausberg RL, Feingold EA, Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Jobard F, Lefèvre C, Karaduman A et al. (2002). "Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1.". Hum. Mol. Genet. 11 (1): 107–13. doi:10.1093/hmg/11.1.107. PMID 11773004.
- Schneider C, Keeney DS, Boeglin WE, Brash AR (2001). "Detection and cellular localization of 12R-lipoxygenase in human tonsils.". Arch. Biochem. Biophys. 386 (2): 268–74. doi:10.1006/abbi.2000.2217. PMID 11368351.
- Krieg P, Marks F, Fürstenberger G (2001). "A gene cluster encoding human epidermis-type lipoxygenases at chromosome 17p13.1: cloning, physical mapping, and expression.". Genomics 73 (3): 323–30. doi:10.1006/geno.2001.6519. PMID 11350124.
- Tang K, Finley RL, Nie D, Honn KV (2000). "Identification of 12-lipoxygenase interaction with cellular proteins by yeast two-hybrid screening.". Biochemistry 39 (12): 3185–91. doi:10.1021/bi992664v. PMID 10727209.
- Sun D, McDonnell M, Chen XS et al. (1999). "Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment.". J. Biol. Chem. 273 (50): 33540–7. doi:10.1074/jbc.273.50.33540. PMID 9837935.
- Boeglin WE, Kim RB, Brash AR (1998). "A 12R-lipoxygenase in human skin: mechanistic evidence, molecular cloning, and expression.". Proc. Natl. Acad. Sci. U.S.A. 95 (12): 6744–9. doi:10.1073/pnas.95.12.6744. PMC 22619. PMID 9618483.