Rabbit anti-Human ASAH1 Polyclonal Antibody | anti-ASAH1 antibody

ASAH1 antibody

Cat. Num. AAA9409766

• Gene Names: ASAH1; AC; PHP; ASAH; PHP32; ACDase; SMAPME
• Reactivity: Human
• Applications: Western Blot
• Purity: Antibodies were purified by affinity purification using immunogen.
• Synonyms: ASAH1; Polyclonal Antibody; ASAH1 antibody; AC; PHP; ASAH; PHP32; ACDase; SMAPME; anti-ASAH1 antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Specificity: The antibody detects endogenous level of total ASAH1 antibody.
• Purity/Purification: Antibodies were purified by affinity purification using immunogen.
• Form/Format: Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
• Concentration: 1.0 mg/ml (varies by lot)
• Sequence Length: 389

• Applicable Applications for anti-ASAH1 antibody: Western Blot (WB)
• Application Notes: Western blotting: 1:500 - 1:2000
• Immunogen Type: Recombinant Protein
• Immunogen Description: Recombinant protein of human ASAH1.
• Target Name: ASAH1
• Preparation and Storage: Store at -20 degree C

Western Blot (WB)

(Western blot analysis of extracts of various cell lines, using ASAH1 antibody.)

Related Product Information for anti-ASAH1 antibody

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.

Product Categories/Family for anti-ASAH1 antibody

Total protein Ab

NCBI and Uniprot Product Information

• NCBI GI #: 189011550
• NCBI GeneID: 427
• NCBI Accession #: NP_001120977.1
• NCBI GenBank Nucleotide #: NM_001127505.1
• UniProt Accession #: Q13510; Q6W898; Q96AS2; E9PDS0
• Molecular Weight: 44,046 Da
• NCBI Official Full Name: acid ceramidase isoform 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
• 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: Hydrolase; Lipid Metabolism - sphingolipid; EC 3.5.1.23

Chromosomal Location of Human Ortholog: 8p22

Cellular Component: lysosomal lumen

Molecular Function: ceramidase activity; catalytic activity

Biological Process: response to organic substance; sphingolipid metabolic process; glycosphingolipid metabolic process; ceramide metabolic process; lung development

Disease: Farber Lipogranulomatosis