DUOXA1 - dual oxidase maturation factor 1 Gene

中文名称：双氧化酶成熟因子 1

种属: Homo sapiens

同用名: NIP; mol; NUMBIP

关于 DUOXA1

功能概要

双氧化酶 DUOX1 和 DUOX2 是 NADPH 氧化酶，参与甲状腺激素生成所必需的过氧化氢生成。它们分别与特定的成熟因子 DUOXA1 和 DUOXA2 形成异二聚体，这对于 DUOX 酶复合物的成熟和功能至关重要。该基因编码 DUOX1 激活剂或成熟因子 DUOXA1。大鼠研究确定了一个双向启动子，它控制 DUOX1 和 DUOXA1 基因的转录。当与 DUOX1 共表达时，该蛋白被共转运到细胞表面，当没有 DUOX1 蛋白表达时，该蛋白保留在内质网中。该基因或 DUOX1 基因的表达不受甲状腺激素合成中的大分子前体甲状腺球蛋白 (Tg) 的抑制，而 DUOX2 和 DUOXA2 的表达受到 Tg 的显着抑制。该蛋白也是一种参与 p53 依赖性神经元分化的 p53 调节神经源性因子。已为该基因发现编码不同亚型的多个可变剪接转录物变体。[RefSeq 提供，2013 年 1 月]

Dual oxidases DUOX1 and DUOX2 are NADPH oxidases which are involved in hydrogen peroxide production necessary for thyroid hormonogenesis. They form a heterodimer with specific maturation factors DUOXA1 and DUOXA2, respectively, which is essential for the maturation and function of the DUOX enzyme complexes. This gene encodes the DUOX1 activator or maturation factor DUOXA1. Rat studies identified a bidirectional promoter which controls the transcription of the DUOX1 and DUOXA1 genes. This protein is cotransported to the cell surface when coexpressed with DUOX1 and is retained in the endoplasmic reticulum when expressed without DUOX1 protein. The expression of this gene or the DUOX1 gene is not suppressed by thyroglobulin (Tg), a macromolecular precursor in thyroid hormone synthesis, while the expression of the DUOX2 and DUOXA2 are significantly suppressed by the Tg. This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]