AGPAT2 Gene - GeneCards | PLCB Protein | PLCB Antibody
2024年12月24日 · AGPAT2 (1-Acylglycerol-3-Phosphate O-Acyltransferase 2) is a Protein Coding gene. Diseases associated with AGPAT2 include Lipodystrophy, Congenital Generalized, …
AGPAT2 - Wikipedia
1-acyl-sn-glycerol-3-phosphate acyltransferase beta is an enzyme that in humans is encoded by the AGPAT2 gene. [5][6][7] This gene encodes a member of the 1-acylglycerol-3-phosphate O …
Nature Communications：杨洪远团队揭示脂类合成以及脂肪组织 …
AGPAT2是唯一一种功能缺失突变导致严重的人类先天性全身性脂肪营养不良的AGPAT亚型。 矛盾的是，已知 AGPAT2 缺乏会显着增加其产物 PA 的水平。 AGPAT2是否以及如何影响LD的 …
“脂肪”不要走——先天性全身性脂肪萎缩症 - 知乎
根据致病基因的不同，CGL可分为四种不同的亚型：CGL1、CGL2、CGL3和CGL4，分别由AGPAT2、 BSCL2 、CAV1和PTRF四个基因的突变造成。 每种亚型在疾病表型的严重程度、 …
AGPAT2 interaction with CDP-diacylglycerol synthases promotes ... - Nature
2021年11月25日 · AGPAT2 is the only AGPAT isoform whose loss-of-function mutations cause a severe form of human congenital generalized lipodystrophy. Paradoxically, AGPAT2 …
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
2025年2月8日 · AGPAT2 is mutated in congenital generalized lipodystrophy linked to chromosome 9q34. This gene encodes a member of the 1-acylglycerol-3-phosphate O …
1-酰基甘油-3-磷酸 O-酰基转移酶 2（AGPAT2）基因 | MCE
该蛋白质位于内质网膜内，将溶血磷脂酸转化为磷脂酸，这是磷脂从头生物合成的第二步。 该基因的突变与先天性全身性脂肪营养不良 (CGL) 或 Berardinelli-Seip 综合征有关，这种疾病的特征 …
AGPAT2 - an overview | ScienceDirect Topics
AGPAT2 is a key enzyme involved in triglyceride and phospholipid biosynthesis and, thus, the discovery of AGPAT2 mutations has heightened interest in the biochemical pathways of …
AGPAT2 gene - MedlinePlus
The AGPAT2 gene provides instructions for making an enzyme that is found in many of the body's cells and tissues. It plays a critical role in the growth and development of adipocytes, which …
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
2025年1月4日 · Clinical resource with information about AGPAT2, Congenital generalized lipodystrophy type 1, and available tests. There are links to practice guidelines and …