EC Number | Cloned (Comment) | Organism |
---|---|---|
3.1.4.12 | SMPD1 gene, genotyping | Homo sapiens |
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 |
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 | - |
? |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
3.1.4.12 | Homo sapiens | - |
- |
- |
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 | - |
? |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
3.1.4.12 | SMPD1 | - |
Homo sapiens |
3.1.4.12 | sphingomyelin phosphodiesterase-1 | - |
Homo sapiens |