Rabbit ASAH1 Polyclonal Antibody | anti-ASAH1 antibody

ASAH1 Antibody

Cat. Num. AAA150694

• Gene Names: ASAH1; AC; PHP; ASAH; PHP32; ACDase; SMAPME
• Reactivity: Human, Mouse, Rat
• Applications: ELISA, Western Blot, Immunohistochemistry, Immunofluorescence
• Purity: ASAH1 Antibody is affinity chromatography purified via peptide column.
• Synonyms: ASAH1; Polyclonal Antibody; ASAH1 Antibody; AC; PHP; ASAH; PHP32; ACDase; SMAPME; HSD-33; HSD33; Acid ceramidase; Acylsphingosine deacylase; N-acylsphingosine amidohydrolase (acid ceramidase) 1; anti-ASAH1 antibody

• Host: Rabbit
• Reactivity: Human, Mouse, Rat
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Multiple isoforms of ASAH1 are known to exist.
• Purity/Purification: ASAH1 Antibody is affinity chromatography purified via peptide column.
• Form/Format: Liquid
• Concentration: 1 mg/mL (varies by lot)
• Sequence Length: 546

• Applicable Applications for anti-ASAH1 antibody: ELISA (EIA), Western Blot (WB), Immunohistochemistry (IHC), Immunofluorescence (IF)
• Application 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.
• 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.
• Preparation and Storage: 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.

Western Blot (WB)

(Western blot analysis of ASAH1 in human heart tissue lysate with ASAH1 antibody at 1 μg/mL.)

Immunohistochemistry (IHC)

(Immunohistochemistry of ASAH1 in human heart tissue with ASAH1 antibody at 2.5 μg/mL.)

Immunofluorescence (IF)

(Immunofluorescence of ASAH1 in Human Heart cells with ASAH1 antibody at 20 μg/mL.)

Immunohistochemistry (IHC)

(Immunohistochemistry of ASAH1 in rat heart tissue with ASAH1 antibody at 5 μg/mL.)

Immunofluorescence (IF)

(Immunofluorescence of ASAH1 in rat heart tissue with ASAH1 antibody at 20 μg/mL.Red: ASAH1 Antibody (4741)Blue: DAPI staining)

Related Product Information for anti-ASAH1 antibody

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 and Uniprot Product Information

• NCBI GI #: 119584199
• NCBI GeneID: 427
• UniProt Accession #: Q13510; Q6W898; Q96AS2; E9PDS0
• Molecular Weight: 44,046 Da
• NCBI Official Full Name: N-acylsphingosine amidohydrolase (acid ceramidase) 1, isoform CRA_c
• 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: 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