SGMS2 Chromosome 4
Sphingomyelin synthase 2
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What This Gene Does
Sphingomyelin, a major component of cell and Golgi membranes, is made by the transfer of phosphocholine from phosphatidylcholine onto ceramide, with diacylglycerol as a side product. The protein encoded by this gene is an enzyme that catalyzes this reaction primarily at the cell membrane. The synthesis is reversible, and this enzyme can catalyze the reaction in either direction. The encoded protein is required for cell growth. Three transcript variants encoding the same protein have been found for this gene. There is evidence for more variants, but the full-length nature of their transcripts has not been determined.[provided by RefSeq, Oct 2008]
Associated Conditions (4)
Inborn genetic diseases
Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
Calvarial doughnut lesions-bone fragility syndrome
Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia
Key Variants
RS762913325
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1560667512
Pathogenic
Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia, Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
Health Risk
RS1560667521
Pathogenic
Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia, Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia
Health Risk
RS1560667389
Pathogenic/Likely pathogenic
Calvarial doughnut lesions-bone fragility syndrome, Inborn genetic diseases, Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS762913325 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1560667512 | Health Risk | Pathogenic | Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia, Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia |
| RS1560667521 | Health Risk | Pathogenic | Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia, Calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia |
| RS1560667389 | Health Risk | Pathogenic/Likely pathogenic | Calvarial doughnut lesions-bone fragility syndrome, Inborn genetic diseases, Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia |