HNF4A基因突变与药物因子介绍

这个基因编码的蛋白质是一种核转录因子，它以同二聚体的形式与dna结合。编码的蛋白质控制着多种基因的表达，包括肝细胞核因子1α，一种调节多种肝基因表达的转录因子。这个基因可能在肝、肾和肠的发育中起作用。该基因突变与单基因常染色体显性遗传的非胰岛素依赖型糖尿病I型相关。该基因的选择性剪接导致编码多种不同亚型的多个转录变体。[由RefSeq提供，2012年4月]
The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012]