ALOX12B

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Arachidonate 12-lipoxygenase, 12R type
Identifiers
Symbols ALOX12B ; 12R-LOX; ARCI2
External IDs OMIM603741 MGI1274782 HomoloGene884 GeneCards: ALOX12B Gene
EC number 1.13.11.-
RNA expression pattern
PBB GE ALOX12B 207381 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 242 11686
Ensembl ENSG00000179477 ENSMUSG00000032807
UniProt O75342 O70582
RefSeq (mRNA) NM_001139 NM_009659
RefSeq (protein) NP_001130 NP_033789
Location (UCSC) Chr 17:
7.98 – 7.99 Mb
Chr 11:
69.16 – 69.17 Mb
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]

Function[edit]

This gene encodes an enzyme involved in the conversion of arachidonic acid to 12R-hydroxyeicosatetraenoic acid.[2][3]

Clinical significance[edit]

Mutations in this gene are associated with nonbullous congenital ichthyosiform erythrodema.[4][5]

References[edit]

  1. ^ "Entrez Gene: ALOX12B arachidonate 12-lipoxygenase, 12R type". 
  2. ^ 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. 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ 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[edit]