AAC50907.1
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
44,046 Da
NCBI Official Full Name
acid ceramidase
NCBI Official Synonym Full Names
N-acylsphingosine amidohydrolase (acid ceramidase) 1
NCBI Official Synonym Symbols
AC; PHP; ASAH; PHP32; ACDase; SMAPME [Similar Products]
NCBI Protein Information
acid ceramidase; acid CDase; acylsphingosine deacylase; putative 32 kDa heart protein
UniProt Protein Name
Acid ceramidase
UniProt Synonym Protein Names
Acylsphingosine deacylase; N-acylsphingosine amidohydrolase; Putative 32 kDa heart protein; PHP32
UniProt Synonym Gene Names
UniProt Entry Name
ASAH1_HUMAN
NCBI Summary for ASAH1
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 Comments for ASAH1
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: ceramidase activity; catalytic 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
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with ASAH1 elisa kit
Pathways associated with ASAH1 elisa kit
Diseases associated with ASAH1 elisa kit
Organs/Tissues associated with ASAH1 elisa kit
|