ASAH1 Antibody | MyBioSource MBS150694 product information

product summary

company name :

MyBioSource

product type :

antibody

product name :

ASAH1 Antibody

catalog :

MBS150694

quantity :

0.1 mg

price :

345 USD

clonality :

polyclonal

host :

rabbit

conjugate :

nonconjugated

reactivity :

human, mouse, rat

application :

western blot, ELISA, immunohistochemistry, immunocytochemistry, enzyme immunoassay

more info or order :

MyBioSource product webpage

product information

catalog number :

MBS150694

products type :

Antibody

products full name :

ASAH1 Antibody

products short name :

ASAH1

products name syn :

ASAH1; AC; PHP; ASAH; PHP32; ACDase; SMAPME; HSD-33; HSD33; Acid ceramidase; Acylsphingosine deacylase; AC; N-acylsphingosine amidohydrolase (acid ceramidase) 1

other names :

N-acylsphingosine amidohydrolase (acid ceramidase) 1, isoform CRA_c; Acid ceramidase; acid ceramidase; acid CDase; acylsphingosine deacylase; putative 32 kDa heart protein; N-acylsphingosine amidohydrolase (acid ceramidase) 1; Acylsphingosine deacylase; N-acylsphingosine amidohydrolase; Putative 32 kDa heart protein; PHP32

products gene name :

ASAH1

other gene names :

ASAH1; ASAH1; AC; PHP; ASAH; PHP32; ACDase; SMAPME; ASAH; AC; ACDase; Acid CDase; PHP32

uniprot entry name :

ASAH1_HUMAN

clonality :

Polyclonal

isotype :

IgG

host :

Rabbit

reactivity :

Human, Mouse, Rat

sequence length :

546

specificity :

Multiple isoforms of ASAH1 are known to exist.

purity :

ASAH1 Antibody is affinity chromatography purified via peptide column.

form :

Liquid

concentration :

1 mg/mL

storage stability :

ASAH1 antibody can be stored at 4 degree C for three months and -20 degree C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.

tested application :

ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF)

app notes :

ASAH1 antibody can be used for detection of ASAH1 by Western blot at 1 and 2 mug/mL. Antibody can also be used for immunohistochemistry starting at 2.5 mug/mL. For immunofluorescence start at 20 mug/mL.

other info1 :

Conjugate: Unconjugated. Immunogen: ASAH1 antibody was raised against a 16 amino acid synthetic peptide near the carboxy terminus of the human ASAH1. Buffer: ASAH1 Antibody is supplied in PBS containing 0.02% sodium azide.

products description :

ASAH1 Antibody: Sphingolipids are hydrolyzed by ceramidases to yield sphingosine and fatty acids. These ceramidases are classified according to the pH range that supports their optimal activity. ASAH1 is an acid ceramidase and key regulator of ceramide metabolism. Mutations in this gene results in Farber Lipogranulomatosis, a fatal human genetic disorder that results in the painful swelling of the joints and tendons and pulminary insufficiency, while a complete knockout of its expression is lethal in mice. Recent studies have shown elevated levels of ASAH1 in Alzheimer's disease (AD) patients correlating with a reduction in sphingomyelin and elevation of ceramide. Pretreatment of cultured neurons with recombinant AHAH1 prevented the cells from undergoing A-beta (Ab)-induced apoptosis.

ncbi gi num :

119584199

ncbi acc num :

EAW63795

uniprot acc num :

Q13510

ncbi mol weight :

44,046 Da

ncbi pathways :

Ceramide Signaling Pathway (138023); Glycosphingolipid Metabolism Pathway (530751); Lysosome Pathway (99052); Lysosome Pathway (96865); Metabolic Pathways (132956); Metabolism Pathway (477135); Metabolism Of Lipids And Lipoproteins Pathway (160976); Signal Transduction Of S1P Receptor Pathway (198819); Sphingolipid Metabolism Pathway (760636); Sphingolipid Metabolism Pathway (82994)

ncbi summary :

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 summary :

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: EC 3.5.1.23; Hydrolase; Lipid Metabolism - sphingolipid. 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

size1 :

0.1 mg

price1 :

345 USD

more info or order :

MyBioSource product webpage