PTDSS1
Description
The PTDSS1 (phosphatidylserine synthase 1) is a protein-coding gene located on chromosome 8.
PTDSS1, the gene encoding Phosphatidylserine synthase 1, is responsible for producing an enzyme that creates phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine. This enzyme resides within the mitochondria-associated membrane of the endoplasmic reticulum, serving both structural and signaling functions. Mutations in this gene can lead to Lenz-Majewski hyperostotic dwarfism. Two distinct isoforms of this protein are produced from different transcript variants.
PTDSS1 catalyzes a base-exchange reaction where the polar head group of phosphatidylethanolamine (PE) or phosphatidylcholine (PC) is replaced with L-serine. This primarily involves the conversion of phosphatidylcholine. While PTDSS1 can also convert phosphatidylethanolamine, this occurs in vitro and to a lesser extent.
PTDSS1 is also known as LMHD, PSS1, PSSA.
