Gene Symbol | PTDSS1 |
Entrez Gene ID | 9791 |
Full Name | phosphatidylserine synthase 1 |
Synonyms | LMHD,PSS1,PSSA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Mar 2014]. |
Disorder MIM: | |
Disorder Html: | Lenz-Majewski hyperostotic dwarfism, 151050 (3) |