Human ASAH1 (Acid ceramidase) ELISA Kit | ASAH1 elisa kit

Human ASAH1 (Acid ceramidase) ELISA Kit

Cat. Num. AAA7612306

• Gene Names: ASAH1; AC; PHP; ASAH; PHP32; ACDase; SMAPME
• Reactivity: Human
• Synonyms: ASAH1 (Acid ceramidase); Human ASAH1 (Acid ceramidase) ELISA Kit; Acid ceramidase; AC; ACDase; Acid Cdase; Acylsphingosine deacylase; N-acylethanolamine hydrolase ASAH1; N-acylsphingosine amidohydrolase; Putative 32 kDa heart protein; PHP32; Acid ceramidase subunit alpha; Acid ceramidase subunit beta; ASAH; HSD-33; HSD33; ASAH1; ASAH1 elisa kit

• Reactivity: Human
• Specificity: This assay has high sensitivity and excellent specificity for detection of ASAH1. No significant cross-reactivity or interference between ASAH1 and analogues was observed.

• Samples: Serum, plasma, tissue homogenates and other biological fluids
• Assay Type: Quantitative Sandwich
• Detection Range: 0.156-10ng/ml
• Sensitivity: 0.094ng/ml
• Intra-assay Precision: CV<8%
• Inter-assay Precision: CV<10%
• Preparation and Storage: Store at 2-8 degree C for 6 months

Typical Testing Data/Standard Curve (for reference only)

Related Product Information for ASAH1 elisa kit

Principle of the Assay: This kit was based on sandwich enzyme-linked immune-sorbent assay technology. Capture antibody was pre-coated onto 96-well plates. And the biotin conjugated antibody was used as detection antibodies. The standards, test samples and biotin conjugated detection antibody were added to the wells subsequently, and washed with wash buffer. HRP-Streptavidin was added and unbound conjugates were washed away with wash buffer. TMB substrates were used to visualize HRP enzymatic reaction. TMB was catalyzed by HRP to produce a blue color product that changed into yellow after adding acidic stop solution. The density of yellow is proportional to the target amount of sample captured in plate. Read the O.D. absorbance at 450nm in a microplate reader, and then the concentration of target can be calculated.

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