SGMS2 Chromosome 4

Sphingomyelin synthase 2
4 variants 4 Health Risk

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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
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
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