基因名:
ASAH1
产品别名:
AC; ACDase; ASAH; PHP; PHP32; SMAPME; ASAH1; N-acylsphingosine amidohydrolase 1; N-acylsphingosine amidohydrolase 1; acid ceramidase; N-acylethanolamine hydrolase ASAH1; N-acylsphingosine amidohydrolase (acid ceramidase) 1; acid CDase; acylsphingosine deacylase; putative 32 kDa heart protein; N-酰基鞘氨醇酰胺水解酶1(ASAH1); 酸性神经酰胺酶1;
背景信息:
Acid ceramidase catalyzes the degradation of ceramide in normal tissues, and deficiency leads to accumulation of ceramide in tissues, a hallmark of Farber disease. Effected individuals experience early onset joint problems and neurological problems, owing to mutations in the acid ceramidase gene. Bioinformatic analysis of gene expression also reveals acid ceramidase to be among the 5 most important genes associated with melanoma. In addition to ceramide hydrolysis, purified acid ceramidase also exhibits the ability to catalyze ceramide synthesis, utilizing [14C]lauric acid and sphingosine as substrates. Interestingly, pH regulates which reaction is favored; for hydrolysis the pH optimum is 4.5, whereas for the reverse reaction favors a pH of 5.5, further supporting a complex and central role for acid ceramidase in sphingolipid metabolism.