Recombinant Human SMPD1 Protein, GMP Grade
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Cat#:
SMPD1-072THP
Common Name:
SMPD1
Product Name:
Recombinant Human SMPD1 Protein, GMP Grade
Product Overview:
Recombinant Human SMPD1 Protein without tag was produced in an animal component free process under cGMP guidelines.
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.
Species:
Human
Molecular Mass:
63590.93 Da
AA Sequence:
HPLSPQGHPARLHRIVPRLRDVFGWGNLTCPICKGLFTAINLGLKKEPNVARVGSVAIKLCNLLKIAPPAVCQSIVHLFEDDMVEVWRRSVLSPSEACGLLLGSTCGHWDIFSSWNISLPTVPKPPPKPPSPPAPGAPVSRILFLTDLHWDHDYLEGTDPDCADPLCCRRGSGLPPASRPGAGYWGEYSKCDLPLRTLESLLSGLGPAGPFDMVYWTGDIPAHDVWHQTRQDQLRALTTVTALVRKFLGPVPVYPAVGNHESTPVNSFPPPFIEGNHSSRWLYEAMAKAWEPWLPAEALRTLRIGGFYALSPYPGLRLISLNMNFCSRENFWLLINSTDPAGQLQWLVGELQAAEDRGDKVHIIGHIPPGHCLKSWSWNYYRIVARYENTLAAQFFGHTHVDEFEVFYDEETLSRPLAVAFLAPSATTYIGLNPGYRVYQIDGNYSGSSHVVLDHETYILNLTQANIPGAIPHWQLLYRARETYGLPNTLPTAWHNLVYRMRGDMQLFQTFWFLYHKGHPPSEPCGTPCRLATLCAQLSARADSPALCRHLMPDGSLPEAQSLWPRPLFC
Endotoxin:
<0.1 EU/μg of the protein by the LAL method
Purity:
> 95 % by SDS-PAGE and HPLC analysis
Usage:
Human Acid Sphingomyelinase Deficiency; Sphingomyelin Lipidosis
Gene Name:
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal [ Homo sapiens (human) ]
Official Symbol:
SMPD1
Synonyms:
SMPD1; sphingomyelin phosphodiesterase 1, acid lysosomal; sphingomyelin phosphodiesterase; acid sphingomyelinase; ASM; NPD; ASMASE;
GeneID:
6609
mRNA Refseq:
NM_000543
Protein Refseq:
NP_000534
MIM:
607608
UniProt ID:
P17405
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