PLA2G6 (phospholipase A2 group VI)
- symbol:
- PLA2G6
- locus group:
- protein-coding gene
- location:
- 22q13.1
- gene_family:
- Ankyrin repeat domain containing|Patatin-like phospholipase domain containing|Phospholipases|Parkinson disease associated genes
- alias symbol:
- iPLA2|PNPLA9|PARK14|iPLA2beta|NBIA2
- alias name:
- neurodegeneration with brain iron …
- entrez id:
- 8398
- ensembl gene id:
- ENSG00000184381
- ucsc gene id:
- uc003auy.2
- refseq accession:
- NM_001004426
- hgnc_id:
- HGNC:9039
- approved reserved:
- 1998-09-07
PLA2G6（磷脂酶A2第6组）属于钙非依赖性磷脂酶A2（iPLA2）家族，主要编码一种参与磷脂代谢的酶，能水解甘油磷脂的sn-2位酯键，释放游离脂肪酸和溶血磷脂。该基因在维持细胞膜稳态、信号转导和炎症反应中起重要作用，尤其在脑组织中高表达，对神经元的存活和功能至关重要。PLA2G6的突变与多种神经退行性疾病相关，如婴儿神经轴索营养不良（INAD）、帕金森综合征（PARK14）和脑铁积累神经变性病（NBIA），这些突变通常导致酶活性丧失或降低，影响线粒体功能、脂质代谢和自噬过程，最终引发神经元死亡和运动障碍。PLA2G6过表达可能引起氧化应激和脂质过氧化加剧，而表达降低则导致膜修复障碍和神经退行性变。该基因属于磷脂酶A2超家族，其成员均具有保守的催化结构域，但PLA2G6独特之处在于其钙非依赖性特性。家族共性包括参与炎症介质（如花生四烯酸）的生成、膜重塑和细胞凋亡调控。研究还发现PLA2G6与α-突触核蛋白聚集有关，可能通过影响脂质环境促进帕金森病的病理发展。此外，该基因在心脏和免疫系统中也有功能，其异常可能间接影响其他脂代谢相关基因（如COX-2）的表达。
The protein encoded by this gene is an A2 phospholipase, a class of enzyme that catalyzes the release of fatty acids from phospholipids. The encoded protein may play a role in phospholipid remodelling, arachidonic acid release, leukotriene and prostaglandin synthesis, fas-mediated apoptosis, and transmembrane ion flux in glucose-stimulated B-cells. Several transcript variants encoding multiple isoforms have been described, but the full-length nature of only three of them have been determined to date. [provided by RefSeq, Dec 2010]
由该基因编码的蛋白质是A2磷脂，一类酶的催化的脂肪酸从磷脂的释放。所编码的蛋白质可在磷脂重塑，花生四烯酸释放，白三烯和前列腺素的合成，FAS介导的凋亡，而跨膜离子通量的葡萄糖刺激的B细胞中发挥作用。几个转录变体编码的多个同种型进行了说明，但只有其中的三个全长性质已经被确定为最新的。 [由RefSeq的，2010年12月提供]
基因本体信息
PLA2G6基因（以及对应的蛋白质）的细胞分布位置：
- 质膜
- 细胞质
- 细胞外
- 高尔基体
- 囊泡
- 细胞骨架
- 内质网
- 细胞核
- 内体
- 溶酶体
- 线粒体
PLA2G6基因的本体（GO）信息：
| 名称 |
|---|
| 564 Glycerophospholipid metabolism [PATH:hsa00564] |
| 565 Ether lipid metabolism [PATH:hsa00565] |
| 590 Arachidonic acid metabolism [PATH:hsa00590] |
| 591 Linoleic acid metabolism [PATH:hsa00591] |
| 592 alpha-Linolenic acid metabolism [PATH:hsa00592] |
| 4014 Ras signaling pathway [PATH:hsa04014] |
| 4666 Fc gamma R-mediated phagocytosis [PATH:hsa04666] |
| 4270 Vascular smooth muscle contraction [PATH:hsa04270] |
| 4750 Inflammatory mediator regulation of TRP channels [PATH:hsa04750] |
| 名称 |
|---|
| Acyl chain remodeling of CL |
| Acyl chain remodelling of PC |
| Acyl chain remodelling of PE |
| Fcgamma receptor (FCGR) dependent phagocytosis |
| Glycerophospholipid biosynthesis |
| Immune System |
| Innate Immune System |
| Metabolism of lipids and lipoproteins |
| Phospholipid metabolism |
| Role of phospholipids in phagocytosis |
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE | 0.480542884 | 2 | 5 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Infantile Neuroaxonal Dystrophy | 0.448143256 | 31 | 8 | BeFree_CLINVAR_CTD_human_MGD_UNIPROT |
| NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) | 0.360271442 | 2 | 5 | BeFree_CLINVAR_CTD_human_UNIPROT |
| melanoma | 0.130825337 | 9 | 2 | BeFree_GAD_GWASCAT |
| Nevus | 0.125005506 | 3 | 2 | BeFree_CTD_human_GAD |
| Karak Syndrome | 0.120814326 | 3 | 1 | BeFree_CLINVAR |
| Metabolic Syndrome X | 0.08 | 1 | 0 | RGD |
| Pleurisy | 0.08 | 1 | 0 | RGD |
| Neuroaxonal Dystrophies | 0.008444493 | 4 | 0 | BeFree_LHGDN |
| Schizophrenia | 0.006091273 | 6 | 0 | BeFree_GAD |
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