DDX39A - DExD-box helicase 39A Gene

中文名称：DExD-box 解旋酶 39A

种属: Homo sapiens

同用名: BAT1; DDXL; BAT1L; DDX39; URH49

关于 DDX39A

功能概要

该基因编码 DEAD box 蛋白家族的一个成员。这些蛋白质的特征在于保守基序 Asp-Glu-Ala-Asp (DEAD) ，并且是推定的 RNA 解旋酶。它们涉及许多涉及 RNA 二级结构改变的细胞过程，例如翻译起始、核和线粒体剪接以及核糖体和剪接体组装。根据它们的分布模式，DEAD box 蛋白家族的一些成员被认为参与胚胎发生、精子发生以及细胞生长和分裂。该基因被认为在胃肠道间质瘤患者的预后中发挥作用。该基因的假基因存在于 13 号染色体上。交替剪接导致多个转录变体。已经描述了该基因的其他可变剪接转录变体，但它们的全长性质尚不清楚。[RefSeq 提供，2013 年 9 月]

This gene encodes a member of the DEAD box protein family. These proteins are characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD) and are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene is thought to play a role in the prognosis of patients with gastrointestinal stromal tumors. A pseudogene of this gene is present on chromosome 13. Alternate splicing results in multiple transcript variants. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Sep 2013]