ALOX12B
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| Arachidonate 12-lipoxygenase, 12R type | |||||||||||
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| Identifiers | |||||||||||
| Symbols | ALOX12B; 12R-LOX | ||||||||||
| External IDs | OMIM: 603741 MGI: 1274782 HomoloGene: 884 GeneCards: ALOX12B Gene | ||||||||||
| EC number | 1.13.11.- | ||||||||||
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| RNA expression pattern | |||||||||||
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| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 242 | 11686 | |||||||||
| Ensembl | ENSG00000179477 | ENSMUSG00000032807 | |||||||||
| UniProt | O75342 | Q5NCF8 | |||||||||
| RefSeq (mRNA) | NM_001139 | NM_009659.2 | |||||||||
| RefSeq (protein) | NP_001130 | NP_033789.1 | |||||||||
| Location (UCSC) | Chr 17: 7.98 – 7.99 Mb |
Chr 11: 68.97 – 68.98 Mb |
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| PubMed search | [1] | [2] | |||||||||
Arachidonate 12-lipoxygenase, 12R type, also known as ALOX12B, is an enzyme which in humans is encoded by the ALOX12B gene.[1][2][3]
Contents |
[edit] Function
This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid.[2][3]
[edit] Clinical significance
Mutations in this gene are associated with nonbullous congenital ichthyosiform erythrodema.[4][5]
[edit] References
- ^ "Entrez Gene: ALOX12B arachidonate 12-lipoxygenase, 12R type". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=242.
- ^ a b 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=22619.
- ^ a b 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.
[edit] 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=528928.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241.
- 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. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=22619.
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