Recombinant Human ASAH1

• Cat.No.: ASAH1-26424TH
• Product Overview: Recombinant fragment of Human ASAH1 with an N terminal proprietary tag; Predicted MW 36.63 kDa.

Specification

• 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.
• Protein length: 100 amino acids
• Molecular Weight: 36.630kDa inclusive of tags
• Source: Wheat germ
• Tissue specificity: Broadly expressed with highest expression in heart.
• Form: Liquid
• Purity: Proprietary Purification
• Storage buffer: pH: 8.00Constituents:0.3% Glutathione, 0.79% Tris HCl
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
• Sequences of amino acids: PPWTEDCRKSTYPPSGPTYRGAVPW YTINLDLPPYKRWHELMLDKAPMLK VIVNSLKNMINTFVPSGKVMQVVDE KLPGLLGNFPGPFEEEMKGIAAVTD
• Sequence Similarities: Belongs to the acid ceramidase family.

Gene Information

• Gene Name: ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1 [ Homo sapiens ]
• Official Symbol: ASAH1
• Synonyms: ASAH1; N-acylsphingosine amidohydrolase (acid ceramidase) 1; ASAH, N acylsphingosine amidohydrolase (acid ceramidase); acid ceramidase; AC; FLJ21558; PHP32
• Gene ID: 427
• mRNA Refseq: NM_001127505
• Protein Refseq: NP_001120977
• MIM: 613468
• Uniprot ID: Q13510
• Chromosome Location: 8p22
• Pathway: Ceramide signaling pathway, organism-specific biosystem; Lysosome, organism-specific biosystem; Lysosome, conserved biosystem; Metabolic pathways, organism-specific biosystem; Signal Transduction of S1P Receptor, organism-specific biosystem
• Function: catalytic activity; ceramidase activity; hydrolase activity

Reviews

03/21/2022

Such dedicated support makes me feel confident in my choice of using the ASAH1 protein for my experiments.

04/09/2017

The manufacturer's commitment to excellence is truly commendable, especially when it comes to their outstanding technical support.

11/02/2016

The ASAH1 Protein is a protein of exceptional quality that surpasses my expectations and fulfills all my experimental requirements.

Q&As

Can ASAH1 activity be targeted for therapeutic interventions?

Given the involvement of ASAH1 in various diseases, including cancer, modulating its activity or developing ASAH1 inhibitors holds promise as potential therapeutic strategies.

Can alterations in ASAH1 gene expression affect cellular differentiation?

Yes, alterations in ASAH1 gene expression or activity can impact cellular differentiation processes, as ceramide metabolism is crucial for normal development and tissue homeostasis.

Are there any diseases or conditions associated with the ASAH1 protein?

Yes, mutations or deficiencies in the ASAH1 gene are associated with Farber disease, a rare inherited disorder characterized by the accumulation of ceramide in tissues throughout the body.

Can ASAH1 deficiency be prevented?

ASAH1 deficiency, as seen in Farber disease, is a genetic disorder. Prevention involves genetic counseling for at-risk individuals and prenatal testing during pregnancy.

Can ASAH1 deficiency be detected in newborn screening tests?

Currently, ASAH1 deficiency is not included in routine newborn screening panels. However, advancements in testing methods may lead to its inclusion in the future.

Does the ASAH1 protein have any other biological functions?

Besides its role in ceramide metabolism, the ASAH1 protein can affect immune response, inflammation, and cellular stress responses.

How does dysfunction of the ASAH1 protein impact ceramide metabolism?

Dysfunction of the ASAH1 protein impairs the breakdown of ceramide, leading to its accumulation in various tissues and disrupting cellular homeostasis.

Is the ASAH1 protein involved in any signaling pathways?

Yes, the ASAH1 protein can modulate signaling pathways like the sphingosine-1-phosphate pathway, which influences various cellular processes such as migration, inflammation, and angiogenesis.