Phosphatidylserine synthase 1 explained

Phosphatidylserine synthase 1 is a protein that in humans is encoded by the PTDSS1 gene.[1]

Function

The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. Phosphatidylserine synthase 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. [provided by RefSeq, Mar 2014].

Further reading

Notes and References

  1. Web site: Entrez Gene: Phosphatidylserine synthase 1. 2018-06-07.