2024年12月25日 · PTDSS1 (Phosphatidylserine Synthase 1) is a Protein Coding gene. Diseases associated with PTDSS1 include Lenz-Majewski Hyperostotic Dwarfism and Osteopathia Striata With Cranial Sclerosis. Among its related pathways are Glycerophospholipid biosynthesis and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity.

Phosphatidylserine synthase 1 is a protein that in humans is encoded by the PTDSS1 gene. [5] The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine.

磷脂酰丝氨酸（PS）可通过PE或PC与丝氨酸的碱基交换生成，由磷脂酰丝氨酸合酶（PTDSS）催化。 PTDSS1对PC亲和力更高，而PTDSS2用于催化PE。 PS可被PISD催化脱羧生成PE，构成一个转化循环。 除了磷脂之间互相转化之外，磷脂的脂酰基链还可以被水解下来，再换上另一个脂酰基，称为磷脂的酰基链重塑（acyl chain remodeling）。 这种现象详细的生理功能还不清楚，推测它可以在分子水平上微调膜脂质的组成，以确保最佳的膜物理性能并维持特定的脂质功 …

2024年2月5日 · In a mouse xenograft model, PTDSS1 inhibition efficiently suppressed tumor growth and prolonged survival. Our findings suggest that PS synthesis may be a critical vulnerability of malignant B cell lymphomas that can be targeted pharmacologically.

2024年10月3日 · In mammalian cells, two phosphatidylserine (PS) synthases drive PS synthesis. Gain-of-function mutations in the Ptdss1 gene lead to heightened PS production, causing Lenz-Majewski syndrome (LMS). Recently, pharmacological inhibition of PSS1 has been shown to suppress tumorigenesis. Here, we report t …

2021年4月6日 · Knockdown of phosphatidylserine synthase 1 (PTDSS1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed Protein interactions

磷脂酰丝氨酸定位于内质网的线粒体相关膜，在那里它起到结构作用和信号作用。 该基因的缺陷是导致 Lenz-Majewski 骨质增生性侏儒症的原因。 已发现该基因的两个转录本变体编码不同的亚型。 [RefSeq 提供，2014 年 3 月] The protein encoded by this gene catalyzes the formation of phosphatidylserine from either phosphatidylcholine or phosphatidylethanolamine.

We describe an adult phenotype and two novel PTDSS1 mutations. We suggest that LMS should be considered in the differential diagnosis of a newborn with CL. RYR2, PTDSS1 and AREG are autism susceptibility genes that are implicated in a Lebanese population-based study of copy number variations in this disease.

2022年4月15日 · PS was produced by phosphatidylserine synthase 1 (PTDSS1), and depletion of Ptdss1 from tumor cells in mice reduced ePS levels accompanied by stunted tumor growth and decreased tumor-associated macrophage (TAM) abundance. Ptdss1-deficient tumor cells exposed less PS during apoptosis, which was recognized by the PS receptor MERTK.

PS 由磷脂酰丝氨酸合酶 1 (PTDSS1) 产生，小鼠肿瘤细胞中 Ptdss1 的消耗降低了 ePS 水平，同时肿瘤生长受阻，肿瘤相关巨噬细胞 (TAM) 丰度降低。 Ptdss1缺陷的肿瘤细胞在凋亡过程中暴露的PS较少，这被PS受体MERTK识别。