Recombinant Human SMPD1

• Cat.No.: SMPD1-26292TH
• Product Overview: Recombinant fragment of Human Acid sphingomyelinase with N terminal proprietary tag; predicted MWt: 36.63 kDa including the tag.

Specification

• Description: The protein encoded by this gene is a lysosomal acid sphingomyelinase that converts sphingomyelin to ceramide. The encoded protein also has phospholipase C activity. Defects in this gene are a cause of Niemann-Pick disease type A (NPA) and Niemann-Pick disease type B (NPB). Multiple transcript variants encoding different isoforms have been identified.
• Protein length: 100 amino acids
• Molecular Weight: 36.630kDa inclusive of tags
• Source: Wheat germ
• Form: Liquid
• Purity: Proprietary Purification
• Storage buffer: pH: 8.00Constituents:0.79% Tris HCl, 0.3% Glutathione
• Storage: Shipped on dry ice. Upon delivery aliquot and store at -80oC. Avoid freeze / thaw cycles.
• Sequences of amino acids: AIPHWQLLYRARETYGLPNTLPTAW HNLVYRMRGDMQLFQTFWFLYHKGH PPSEPCGTPCRLATLCAQLSARADS PALCRHLMPDGSLPEAQSLWPRPLF
• Sequence Similarities: Belongs to the acid sphingomyelinase family.Contains 1 saposin B-type domain.

Gene Information

• Gene Name: SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal [ Homo sapiens ]
• Official Symbol: SMPD1
• Synonyms: SMPD1; sphingomyelin phosphodiesterase 1, acid lysosomal; sphingomyelin phosphodiesterase; acid sphingomyelinase; ASM
• Gene ID: 6609
• mRNA Refseq: NM_000543
• Protein Refseq: NP_000534
• MIM: 607608
• Uniprot ID: P17405
• Chromosome Location: 11p15.4-p15.1
• Pathway: Ceramide signaling pathway, organism-specific biosystem; FAS (CD95) signaling pathway, organism-specific biosystem; IL2 signaling events mediated by PI3K, organism-specific biosystem; Lysosome, organism-specific biosystem; Lysosome, conserved biosystem
• Function: hydrolase activity, acting on glycosyl bonds; sphingomyelin phosphodiesterase activity