Mouse anti-Human ASAH1 Monoclonal Antibody | anti-ASAH1 antibody

ASAH1 (Acid Ceramidase, AC, ACDase, Acid CDase, Acylsphingosine Deacylase, N-acylsphingosine Amidohydrolase, Putative 32kD Heart Protein, PHP32, ASAH, HSD33, HSD-33) (AP)

Cat. Num. AAA6130082

• Gene Names: ASAH1; AC; PHP; ASAH; PHP32; ACDase; SMAPME
• Reactivity: Human
• Applications: ELISA, Immunohistochemistry, Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: ASAH1; Monoclonal Antibody; ASAH1 (Acid Ceramidase; AC; ACDase; Acid CDase; Acylsphingosine Deacylase; N-acylsphingosine Amidohydrolase; Putative 32kD Heart Protein; PHP32; ASAH; HSD33; HSD-33) (AP); anti-ASAH1 antibody

• Host: Mouse
• Reactivity: Human
• Clonality: Monoclonal
• Isotype: IgG3,k
• Clone Number: 1A7
• Specificity: Recognizes human ASAH1.
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with Alkaline Phosphatase (AP).

• Applicable Applications for anti-ASAH1 antibody: ELISA (EIA), Immunohistochemistry (IHC) Paraffin, Western Blot (WB)
• Application Notes: IHC-P: 3ug/ml; Applications are based on unconjugated antibody.
• Immunogen: Partial recombinant corresponding to aa25-124 from human ASAH1 (NP_808592) with GST tag. MW of the GST tag alone is 26kD.
• Immunogen Sequence: PPWTEDCRKSTYPPSGPTYRGAVPWYTINLDLPPYKRWHELMLDKAPMLKVIVNSLKNMINTFVPSGKVMQVVDEKLPGLLGNFPGPFEEEMKGIAAVTD
• Conjugate: AP
• Preparation and Storage: Store product at 4 degree C. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(Western Blot detection against Immunogen (36.74kD).)

Western Blot (WB)

(Western Blot analysis of ASAH1 expression in transfected 293T cell line by ASAH1 monoclonal antibody. Lane 1: ASAH1 transfected lysate (45kD). Lane 2: Non-transfected lysate.)

Immunohistochemistry (IHC)

(Immunoperoxidase of monoclonal antibody to ASAH1 on formalin-fixed paraffin-embedded human small Intestine. [antibody concentration 3ug/ml].)

Testing Data

(Detection limit for recombinant GST tagged ASAH1 is ~1ng/ml as a capture antibody.)

Product Categories/Family for anti-ASAH1 antibody

Antibodies; Enzymes

NCBI and Uniprot Product Information

• NCBI GI #: 189011548
• NCBI GeneID: 427
• NCBI Accession #: NP_808592
• NCBI GenBank Nucleotide #: NM_177924
• UniProt Accession #: Q13510
• Molecular Weight: 44kDa
• NCBI Official Full Name: acid ceramidase isoform a preproprotein
• NCBI Official Synonym Full Names: N-acylsphingosine amidohydrolase 1
• NCBI Official Symbol: ASAH1
• NCBI Official Synonym Symbols: AC; PHP; ASAH; PHP32; ACDase; SMAPME
• NCBI Protein Information: acid ceramidase
• 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 member of the acid ceramidase family of proteins. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. Processing of this preproprotein generates alpha and beta subunits that heterodimerize to form the mature lysosomal enzyme, which catalyzes the degradation of ceramide into sphingosine and free fatty acid. This enzyme is overexpressed in multiple human cancers and may play a role in cancer progression. Mutations in this gene are associated with the lysosomal storage disorder, Farber lipogranulomatosis, and a neuromuscular disorder, spinal muscular atrophy with progressive myoclonic epilepsy. [provided by RefSeq, Oct 2015]

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