Description
Product Characteristics:
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.
Subcellular location: Cytoplasm
Synonyms: AC, ACDase, Acid CDase, Acid ceramidase, Acid ceramidase precursor, Acid ceramidase subunit beta, Acylsphingosine deacylase, ASAH 1, ASAH, ASAH1, ASAH1_HUMAN, FLJ21558, FLJ22079, N acylsphingosine amidohydrolase acid ceramidase 1, N acylsphingosine amidohydrolase 1, N acylsphingosine amidohydrolase, N-acylsphingosine amidohydrolase, PHP, PHP32, Putative 32 kDa heart protein.
Target Information: This gene encodes a heterodimeric protein consisting of a nonglycosylated alpha subunit and a glycosylated beta subunit that is cleaved to the mature enzyme posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease. Multiple transcript variants encoding several distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]