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PTDSS1

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

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For Research Use Only. Not For Clinical Use.

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