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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| PTDSS1-20-RE | 20 (40 μL) | 200 μL |  |
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| PTDSS1-20-OR | 20 (40 μL) | 200 μL |  |
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| PTDSS1-20-GO | 20 (40 μL) | 200 μL |  |
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| PTDSS1-20-GR | 20 (40 μL) | 200 μL |  |
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| PTDSS1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : PTDSS1
Gene Name : Phosphatidylserine synthase 1
Chromosome : CHR 8: 962,618,85-963,345,51
Locus : 8q22.1
Alt. Genes : LRPPRC
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