基因名：
FAH
产品别名：
FAH； fumarylacetoacetate hydrolase； fumarylacetoacetate hydrolase； fumarylacetoacetase； FAA； beta-diketonase； epididymis secretory sperm binding protein； fumarylacetoacetate hydrolase (fumarylacetoacetase)； 延胡索二酰乙酰乙酸水解酶(FAH)； 延胡索酰乙酰乙酸水解酶；
背景信息：
Fumarylacetoacetase belongs to the FAH family. Fumarylacetoacetase is primary expressed in liver and kidney. It exists as a homodimer and catalyzes the hydrolysis of 4-fumarylacetoacetate into fumarate and acetoacetate. Defects in Fumarylacetoacetase cause tyrosinemia type 1, which is congenital metabolism defect characterized by elevated levels of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include renal tubular injury, self-mutilation, hepatic necrosis, episodic weakness, and seizures.
