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Literature summary extracted from

  • Dastani, Z.; Ruel, I.L.; Engert, J.C.; Genest, J.; Marcil, M.
    Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol (2007), BMC Med. genet., 8, 79.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
3.1.4.12 SMPD1 gene, genotyping Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
3.1.4.12 G508R naturally occuring polymorphisms in the SMPD1 gene, the G1522A and a hexanucleotide repeat sequence within the signal peptide region, are investigated in 118 unrelated individuals of French Canadian descent with low plasma levels of HDL-cholesterol, allele frequency, the two common coding variants at the SMPD1 gene locus are not associated with low HDL-cholesterol levels in the French Canadian population, overview Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
3.1.4.12 additional information Homo sapiens common polymorphisms of the SMPD1 gene occur in Niemann-Pick disease type A and B, the two common coding variants at the SMPD1 gene locus are not associated with low HDL-cholesterol levels in the French Canadian population, overview ?
-
 ?
3.1.4.12 sphingomyelin + H2O Homo sapiens
-
 N-acylsphingosine + choline phosphate
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
3.1.4.12 Homo sapiens
-
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
3.1.4.12 additional information common polymorphisms of the SMPD1 gene occur in Niemann-Pick disease type A and B, the two common coding variants at the SMPD1 gene locus are not associated with low HDL-cholesterol levels in the French Canadian population, overview Homo sapiens ?
-
 ?
3.1.4.12 sphingomyelin + H2O
-
 Homo sapiens N-acylsphingosine + choline phosphate
-
 ?

Synonyms

EC Number Synonyms Comment Organism
3.1.4.12 SMPD1
-
 Homo sapiens
3.1.4.12 sphingomyelin phosphodiesterase-1
-
 Homo sapiens