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PTDSS1
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For Research Use Only. Not For Clinical Use.
The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine localizes to the mitochondria-associated membrane of the endoplasmic reticulum, where it serves a structural role as well as a signaling role. Defects in this gene are a cause of Lenz-Majewski hyperostotic dwarfism. Two transcript variants encoding different isoforms have been found for this gene.
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets
Predicted location
Membrane
Single cell type specificity
Low cell type specificity
Immune cell specificity
Immune cell enhanced (basophil)
Cell line specificity
Low cell line specificity
Molecular function
Transferase
More Types Infomation