HNF4A

這個基因編碼的蛋白質是一種核轉錄因子，它以同二聚體的形式與dna結合。編碼的蛋白質控制著多種基因的表達，包括肝細胞核因子1α，一種調節多種肝基因表達的轉錄因子。這個基因可能在肝、腎和腸的發育中起作用。該基因突變與單基因常染色體顯性遺傳的非胰島素依賴型糖尿病I型相關。該基因的選擇性剪接導致編碼多種不同亞型的多個轉錄變體。[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]