Acid ceramidase is 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.
Two transcript variants encoding distinct isoforms have been identified for this gene.
In melanocytic cells ASAH1 gene expression may be regulated by MITF.
Defects in ASAH1 are the cause of 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.
Applications:Suitable for use in ELISA, Western Blot, Immunohistochemistry, Immunocytochemistry.
Other applications not tested.
Recommended Dilution:ELISA: 1:100-1:5000 Western Blot: 1:50-400Immunohistochemistry (frozen): 1:50-500Immunohistochemistry (paraffin): 1:10-100Immunocytochemistry: 1:50-500Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：200ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, pH 7.4, 0.02% sodium azide, 50% glycerol.
Specificity：Recognizes human ASAH1.
Isotype：IgG
Calc Applications Abbrev：E IC IHC WB
Calc Crossreactivity：Hu
Immunogen：Recombinant protein corresponding to Cys143-Trp395 of human ASAH1, fused to two N-terminal Tags, His-Tag, T7-tag expressed in E. coli.
