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Acid ceramidase (ASAH1) Recombinant Protein | ASAH1 recombinant protein
Recombinant Human Acid ceramidase (ASAH1)
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NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
ASAH1: Hydrolyzes the sphingolipid ceramide into sphingosine and free fatty acid. Defects in ASAH1 are the cause of Farber lipogranulomatosis (FL); also known as Farber disease (FD). This sphingolipid disease is characterized by subcutaneous lipid-loaded nodules, excruciating pain in the joints and extremities, marked accumulation of ceramide in lysosomes, and death by three years of age. Defects in ASAH1 are the cause of spinal muscular atrophy with progressive myoclonic epilepsy (SMAPME). An autosomal recessive neuromuscular disorder characterized by childhood onset of motor deficits and progressive myoclonic seizures, after normal developmental milestones. Proximal muscle weakness and generalized muscular atrophy are due to degeneration of spinal motor neurons. Myoclonic epilepsy is generally resistant to conventional therapy. The disease course is progressive and leads to respiratory muscle involvement and severe handicap or early death from respiratory insufficiency. Belongs to the acid ceramidase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Lipid Metabolism - sphingolipid; EC 3.5.1.23; Hydrolase
Chromosomal Location of Human Ortholog: 8p22
Cellular Component: lysosomal lumen
Molecular Function: catalytic activity; ceramidase activity
Biological Process: response to organic substance; sphingolipid metabolic process; glycosphingolipid metabolic process; ceramide metabolic process; lung development
Disease: Farber Lipogranulomatosis
Research Articles on ASAH1
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Product Notes
The ASAH1 asah1 (Catalog #AAA1355633) is a Recombinant Protein produced from E Coli or Yeast or Baculovirus or Mammalian Cell and is intended for research purposes only. The product is available for immediate purchase. The immunogen sequence is 22-395aa; Full Length of Mature Protein. The amino acid sequence is listed below: QHAPPWTEDC RKSTYPPSGP TYRGAVPWYT INLDLPPYKR WHELMLDKAP VLKVIVNSLK NMINTFVPSG KIMQVVDEKL PGLLGNFPGP FEEEMKGIAA VTDIPLGEII SFNIFYELFT ICTSIVAEDK KGHLIHGRNM DFGVFLGWNI NNDTWVITEQ LKPLTVNLDF QRNNKTVFKA SSFAGYVGML TGFKPGLFSL TLNERFSING GYLGILEWIL GKKDVMWIGF LTRTVLENST SYEEAKNLLT KTKILAPAYF ILGGNQSGEG CVITRDRKES LDVYELDAKQ GRWYVVQTNY DRWKHPFFLD DRRTPAKMCL NRTSQENISF ETMYDVLSTK PVLNKLTVYT TLIDVTKGQF ETYLRDCPDP CIGW . It is sometimes possible for the material contained within the vial of "Acid ceramidase (ASAH1), Recombinant Protein" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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