N-acylsphingosine amidohydrolase (ASAH1) gene is located on human chromosome 8p22-21.2. It is a 26.5kb long gene, which has 14 exons and 13 introns. This gene codes for a 55kDa protein with two subunits- 13kDa a and 40kDa ß subunits. It is a glycoprotein and the two subunits are produced by auto-proteolytic cleavage. This protein is highly expressed in heart, lung, kidney and placenta and is expressed to a lesser extent in brain, liver, pancreas and skeletal muscle. ASAH1 is localized to lysosomes and human fibroblasts and macrophages secrete it extracellularly.
Synonyms: Anti-AC; Anti-Acid ceramidase precursor; Anti-Acylsphingosine deacylase; Anti-N-acylsphingosine amidohydrolase; Anti-PHP32; Anti-Putative 32 kDa heart protein
Storage: -20C
Application: Anti-ASAH1 antibody is suitable for chromatin immunoprecipitation (ChIP) and reChIP.Anti-ASAH1 antibody produced in rabbit, a Prestige Antibody, is developed and validated by the Human Protein Atlas (HPA) project (www.proteinatlas.org). Each antibody is tested by immunohistochemistry against hundreds of normal and disease tissues. These images can be viewed on the Human Protein Atlas (HPA) site by clicking on the Image Gallery link. The antibodies are also tested using immunofluorescence and western blotting. To view these protocols and other useful information about Prestige Antibodies and the HPA, visit sigma.com/prestige.
Biochem Physiol Actions: N-acylsphingosine amidohydrolase (ASAH1) converts ceramide to fatty acid and sphingosine. ASAH1 deficiency leads to Farber disease (FD) or Farber lipogranulomatosis, which is a lysosomal storage disease. It is characterized by pulmonary insufficiency, painful swelling of joints and tendons, and a shortened life-span, because of the accumulation of ceramide in tissues. It regulates adrenocortical steroidogenesis by maintaining the intracellular balance of ceramide, sphingosine and sphingosine-1-phosphate. These molecules in turn act as second messengers in protein kinase A/cAMP-dependent pathway mediated steroidogenesis. Expression of ASAH1 is found to be elevated in multiple tumor types, especially prostate cancer. Studies suggest that ASAH1 is a potential therapeutic target in chemoresistant and advanced prostate cancer types.
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