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Most cases of renal cancer tissues exhibited strong nuclear immunoreactivity while a few cases of lung, pancreatic, liver and gastric carcinomas revealed moderate cytoplasmic staining. The remaining cancer cells were mainly negative.
GENE INFORMATION
Gene name
PTDSS1 (HGNC Symbol)
Synonyms
KIAA0024, PSS1, PSSA
Description
Phosphatidylserine synthase 1 (HGNC Symbol)
Entrez gene 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]