ASAH1 recombinant protein

Recombinant Human ASAH1 protein

Cat. Num. AAA1561978

• Gene Names: ASAH1; AC; PHP; ASAH; PHP32; ACDase; SMAPME
• Purity: >90% as determined by SDS-PAGE
• Synonyms: ASAH1; Recombinant Human ASAH1 protein; Acid ceramidase; AC; ACDase; Acid CDase; Acylsphingosine deacylase; N-acylethanolamine hydrolase ASAH1; N-acylsphingosine amidohydrolase; Putative 32kDa heart protein; PHP32; ASAH1 recombinant protein

• Host: E Coli
• Purity/Purification: >90% as determined by SDS-PAGE
• Form/Format: Lyophilized. Lyophilized from PBS pH 7.4, 0.2% NLS, 5% Trehalose, 5% Mannose, 1mM EDTA.

• Species: Homo sapiens (Human)
• Protein Construction: A DNA sequence encoding the human ASAH1 (Gln22-Trp395) was fused with His tag
• Reconstitution: Reconstitute in sterile water for a stock solution.
• Preparation and Storage: Store at 2 to 8 degree C for one week. Store at -20 to -80 degree C for twelve months from the date of receipt. Use a manual defrost freezer and avoid repeated freeze thaw cycles.; In general, proteins are provided as lyophilized powder/frozen liquid. They are shipped out with dry ice/blue ice unless customers require otherwise.

Related Product Information for ASAH1 recombinant protein

Lysosomal ceramidase that hydrolyzes sphingolipid ceramides into sphingosine and free fatty acids at acidic pH. Ceramides, sphingosine, and its phosphorylated form sphingosine-1-phosphate are bioactive lipids that mediate cellular signaling pathways regulating several biological processes including cell proliferation, apoptosis and differentiation. Has a higher catalytic efficiency towards C12-ceramides versus other ceramides. Also catalyzes the reverse reaction allowing the synthesis of ceramides from fatty acids and sphingosine. For the reverse synthetic reaction, the natural sphingosine D-erythro isomer is more efficiently utilized as a substrate compared to D-erythro-dihydrosphingosine and D-erythro-phytosphingosine, while the fatty acids with chain lengths of 12 or 14 carbons are the most efficiently used. Has also an N-acylethanolamine hydrolase activity. By regulating the levels of ceramides, sphingosine and sphingosine-1-phosphate in the epidermis, mediates the calcium-induced differentiation of epidermal keratinocytes. Also indirectly regulates tumor necrosis factor/TNF-induced apoptosis. By regulating the intracellular balance between ceramides and sphingosine, in adrenocortical cells, probably also acts as a regulator of steroidogenesis

Product Categories/Family for ASAH1 recombinant protein

Protein

NCBI and Uniprot Product Information

• NCBI GI #: 239938949
• NCBI GeneID: 427
• UniProt Accession #: Q13510; Q6W898; Q96AS2; E9PDS0
• Molecular Weight: 395
• NCBI Official Full Name: Acid ceramidase
• NCBI Official Synonym Full Names: N-acylsphingosine amidohydrolase (acid ceramidase) 1
• NCBI Official Symbol: ASAH1
• NCBI Official Synonym Symbols: AC; PHP; ASAH; PHP32; ACDase; SMAPME
• NCBI Protein Information: acid ceramidase; acid CDase; acylsphingosine deacylase; putative 32 kDa heart protein
• UniProt Protein Name: Acid ceramidase
• Protein Family: Acid ceramidase
• UniProt Gene Name: ASAH1
• UniProt Synonym Gene Names: ASAH; AC; ACDase; Acid CDase; PHP32
• UniProt Entry Name: ASAH1_HUMAN

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