2024年12月25日 · PLA2G6 (Phospholipase A2 Group VI) is a Protein Coding gene. Diseases associated with PLA2G6 include Neurodegeneration With Brain Iron Accumulation 2A and Parkinson Disease 14, Autosomal Recessive. Among its related pathways are Acyl chain remodelling of PE and Glycerophospholipid biosynthesis.

2008年6月19日 · PLA2G6 -associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: INAD usually begins between …

PLA2G6-associated neurodegeneration (PLAN) is a neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive extrapyramidal dysfunction leading to rigidity, dystonia, …

2022年6月14日 · PLA2G6-associated neurodegeneration (PLAN) is an extremely rare, inherited degenerative disorder of the nervous system characterized by abnormalities of nerve endings within the brain, spinal cord and peripheral nerves. PLAN is inherited as an autosomal recessive genetic condition caused by changes (variants) in the PLA2G6 gene.

Broad expression in testis (RPKM 12.7), gall bladder (RPKM 8.6) and 25 other tissues. 该基因编码的蛋白质是 A2 磷脂酶，是一类催化磷脂释放脂肪酸的酶。 编码的蛋白质可能在磷脂重塑、花生四烯酸释放、白三烯和前列腺素合成、fas 介导的细胞凋亡和葡萄糖刺激的 B 细胞中的跨膜离子通量中发挥作用。 已经描述了几种编码多种亚型的转录物变体，但迄今为止仅确定了其中三种的全长性质。 [RefSeq 提供，2010 年 12 月]

Phospholipase A2 group VI (PLA2G6)-associated neurodegeneration (PLAN) includes a series of neurodegenerative diseases that result from the mutations in PLA2G6. PLAN has genetic and clinical heterogeneity, with different mutation sites, mutation types and ethnicities and its clinical phenotype is different.

2023年8月1日 · PLA2G6 -associated neurodegeneration (PLAN) is a continuum of autosomal recessive neurodegenerative disorders, clinically characterized by progressive motor and cognitive deterioration, neuropsychiatric changes, visual signs, and various movement disorders including dystonia, parkinsonism, spasticity, and ataxia (Chen et al., 2018, Cheng et al ...

2024年3月15日 · iPLA2β 是由 PLA2G6 基因编码的一种重要的酶，属于依赖钙的磷脂酶A2家族，参与脂质代谢和膜重塑。 该蛋白在包括大脑、肝脏、脾脏、肌肉和睾丸在内的多种组织中都有表达。

The PLA2G6 gene provides instructions for making a type of enzyme called an A2 phospholipase. This type of enzyme is involved in breaking down (metabolizing) fats called phospholipids. Phospholipid metabolism is important for many body processes, including helping to maintain the integrity of the cell membrane.

PLA2G6-associated neurodegeneration (PLAN) represents a continuum of clinically and genetically heterogeneous neurodegenerative disorders with overlapping features. Usually, it encompasses three autosomal recessive diseases, including infantile neuroaxonal dystrophy or neurodegeneration with brain i …