Primary Identifier | MGI:1274782 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 11686 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables arachidonate 12(S)-lipoxygenase activity; arachidonate 8(R)-lipoxygenase activity; and linoleate 9S-lipoxygenase activity. Involved in several processes, including ceramide biosynthetic process; establishment of skin barrier; and unsaturated fatty acid metabolic process. Located in perinuclear region of cytoplasm. Is expressed in cerebral cortex; gut epithelium; nasal cavity epithelium; and skin. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 2. Orthologous to human ALOX12B (arachidonate 12-lipoxygenase, 12R type). PHENOTYPE: Neonatal homozygous mutant mice exhibit reddened skin that quickly dehydrates and appears scaly. The epidermis is hyperkeratotic, and its permeability barrier function is compromised. Homozygotes die within 24 hours of birth. [provided by MGI curators] |