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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Positive Control: SK-MEL-28 cell lysate, MDA-MB-231 cell lysate, SH-SY5Y cell lysate, human brain tissue, human kidney tissue.
Tissue Specificity: Tissue enhanced (heart).
Subcellular Location: Lysosome, Secreted; Nucleus, Cytoplasm.
Sequence Similarities: 79%Mouse/82%Rat.
Predicted band size: 45 kDa.
ASAH1 encodes a member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. The processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene have been linked to the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. The related pathways include Innate Immune System and Sphingolipid metabolism. Diseases associated with ASAH1 include Farber Lipogranulomatosis and Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: AC; Acid ceramidase; Acylsphingosine deacylase; Glycosylceramide deacylase; N-acylethanolamine hydrolase ASAH1; N-acylsphingosine amidohydrolase; PHP32; Putative 32 kDa heart protein
基因别名: ASAH; ASAH1; HSD-33; HSD33
Entrez Gene ID: (Human) 427