ALOX12B编码脂氧合酶12R-LOX,一种参与脂肪酸代谢的酶。12R-LOX主要在皮肤和其他上皮组织中合成,并且在表皮屏障功能的建立中起重要作用。ALOX12B还通过降低T细胞上的抗原呈递来证明免疫抑制活性。ALOX12B的失活突变在先天性鱼鳞病患者中检测到。ALOX12B的错义和无义突变存在于多种癌症中,包括黑素瘤和其他皮肤癌。在各种癌症中也观察到ALOX12B的缺失和扩增突变,但在 癌症中突变发生频率较低。
ALOX12B encodes 12R-LOX, a lipoxygenease involved in fatty acid metabolism. 12R-LOX is synthesized primarily in the skin and other epithelial tissues and plays an important role in the establishment of the epidermal barrier function. ALOX12B also demonstrates immunosuppressive activity by decreasing antigen presentation on T cells. Inactivating mutations in ALOX12B have been observed in autosomal recessive congenital ichthyosis, a clinically and genetically heterogeneous disease characterized by dried, scaling skin. Missense and nonsense mutations of ALOX12B are found in a wide range of cancers, including melanoma and other skin cancers. Deletions and amplifications of ALOX12B are also observed in various cancers.ALOX12B is infrequently altered in cancer.
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