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    PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent) [ Homo sapiens (human) ]

    Gene ID: 8398, updated on 24-Aug-2015

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    genetic association studies in a population of Han Chinese: Data suggest that SNPs in PLA2G6 (rs132984; rs2284060) are associated with type 2 diabetes and hypertriglyceridemia in the population studied. [Meta-Analysis included]

    Genetic variants of PLA2G6 are associated with Type 2 diabetes mellitus and triglyceride levels in a Chinese population.
    Yan J, Hu C, Jiang F, Zhang R, Wang J, Tang S, Peng D, Chen M, Bao Y, Jia W.

    The loss of PS2 could have a critical role in lung tumor development through the upregulation of iPLA2 activity by reducing gamma-secretase.

    Loss of presenilin 2 is associated with increased iPLA2 activity and lung tumor development.
    Yun HM, Park MH, Kim DH, Ahn YJ, Park KR, Kim TM, Yun NY, Jung YS, Hwang DY, Yoon DY, Han SB, Hong JT., Free PMC Article

    Novel PLA2G6 mutations were identified in all patients with Phospholipase A2 associated neurodegeneration.

    PLA2G6-associated neurodegeneration (PLAN): further expansion of the clinical, radiological and mutation spectrum associated with infantile and atypical childhood-onset disease.
    Illingworth MA, Meyer E, Chong WK, Manzur AY, Carr LJ, Younis R, Hardy C, McDonald F, Childs AM, Stewart B, Warren D, Kneen R, King MD, Hayflick SJ, Kurian MA., Free PMC Article

    our findings indicate that PRDX6 promotes lung tumor growth via increased glutathione peroxidase and iPLA2 activities

    PRDX6 promotes lung tumor progression via its GPx and iPLA2 activities.
    Yun HM, Park KR, Lee HP, Lee DH, Jo M, Shin DH, Yoon DY, Han SB, Hong JT.

    IL-1beta and IFNgamma induces mSREBP-1 and iPLA2beta expression and induce beta-cell apoptosis.

    Evidence of contribution of iPLA2β-mediated events during islet β-cell apoptosis due to proinflammatory cytokines suggests a role for iPLA2β in T1D development.
    Lei X, Bone RN, Ali T, Zhang S, Bohrer A, Tse HM, Bidasee KR, Ramanadham S.,

    The significance of calcium-independent phospholipase A, group VIA (iPLA2-VIA), in retinal pigment epithelial cell survival, was investigated.

    Calcium-independent phospholipase A₂, group VIA, is critical for RPE cell survival.
    Kolko M, Vohra R, Westlund van der Burght B, Poulsen K, Nissen MH., Free PMC Article

    clinical findings may be helpful in distinguishing PLA2G6-related neurodegeneration from the other major cause of NBIA, recessive PANK2 mutations.

    Ophthalmic features of PLA2G6-related paediatric neurodegeneration with brain iron accumulation.
    Khan AO, AlDrees A, Elmalik SA, Hassan HH, Michel M, Stevanin G, Azzedine H, Salih MA.

    the phenotype of neurodegeneration associated with PLA2G6 mutations

    New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations.
    Salih MA, Mundwiller E, Khan AO, AlDrees A, Elmalik SA, Hassan HH, Al-Owain M, Alkhalidi HM, Katona I, Kabiraj MM, Chrast R, Kentab AY, Alzaidan H, Rodenburg RJ, Bosley TM, Weis J, Koenig M, Stevanin G, Azzedine H., Free PMC Article

    This study demonistrated that PLA2g8 expression was significantly decreased in patients treated with antipsychotic drug.

    Antipsychotic drugs decrease iPLA2 gene expression in schizophrenia.
    Kerr DS, Talib LL, Yamamoto VJ, Ferreira AS, Zanetti MV, Serpa MH, Busatto GF, Van de Bilt MT, Gattaz WF.

    The association with bipolar disorder of the iPLA2beta (PLA2G6) its genetic interaction with type 2 transient receptor potential channel gene TRPM2, was examined.

    Association of the iPLA2β gene with bipolar disorder and assessment of its interaction with TRPM2 gene polymorphisms.
    Xu C, Warsh JJ, Wang KS, Mao CX, Kennedy JL.

    identified four rare PLA2G6 mutations in 250 PD patients in Chinese population with Parkinson's disease

    Four novel rare mutations of PLA2G6 in Chinese population with Parkinson's disease.
    Gui YX, Xu ZP, Wen-Lv, Liu HM, Zhao JJ, Hu XY.

    Mutations in PLA2G6 is often associated with rapidly progressive parkinsonism and with additional features including pyramidal signs, cognitive decline and loss of sustained Levodopa responsiveness.

    Early-onset autosomal-recessive parkinsonian-pyramidal syndrome.
    Lai HJ, Lin CH, Wu RM.

    Neuronal phospholipid deacylation is essential for axonal and synaptic integrity through the action of iPLA2 and NTE. (Review)

    Neuronal phospholipid deacylation is essential for axonal and synaptic integrity.
    Glynn P.

    Orai1 and PLA2g6 are involved in adhesion formation, whereas STIM1 participates in both adhesion formation and disassembly.

    Role of molecular determinants of store-operated Ca(2+) entry (Orai1, phospholipase A2 group 6, and STIM1) in focal adhesion formation and cell migration.
    Schäfer C, Rymarczyk G, Ding L, Kirber MT, Bolotina VM., Free PMC Article

    Findings reveal for the first time expression of iPLA(2)beta protein in human islet beta-cells and that induction of iPLA(2)beta during endoplasmic reticulum stress contributes to human islet beta-cell apoptosis.

    Role of calcium-independent phospholipase A(2)β in human pancreatic islet β-cell apoptosis.
    Lei X, Zhang S, Bohrer A, Barbour SE, Ramanadham S., Free PMC Article

    membrane composition and the presence of nucleotides play key roles in recruiting and modulating GVIA-iPLA(2) activity in cells

    Roles of acidic phospholipids and nucleotides in regulating membrane binding and activity of a calcium-independent phospholipase A2 isoform.
    Morrison K, Witte K, Mayers JR, Schuh AL, Audhya A., Free PMC Article

    The present study confirms the involvement of iPLA(2)-VIA in efficient retinal pigment epithelium phagocytosis of photoreceptor outer segments.

    Diverse regulation of retinal pigment epithelium phagocytosis of photoreceptor outer segments by calcium-independent phospholipase A₂, group VIA and secretory phospholipase A₂, group IB.
    Zhan C, Wang J, Kolko M.

    Different and even identical PLA2G6 mutations may cause neurodegenerative diseases with heterogeneous clinical manifestations, including dystonia-parkinsonism.

    R632W mutation in PLA2G6 segregates with dystonia-parkinsonism in a consanguineous Iranian family.
    Sina F, Shojaee S, Elahi E, Paisán-Ruiz C.

    The results of this study suggested that PLA2G6 is not a susceptibility gene for parkinson disease in our population.

    Association between PLA2G6 gene polymorphisms and Parkinson's disease in the Chinese Han population.
    Lv Z, Guo J, Sun Q, Li K, Yu R, Tian J, Yan X, Tang B.

    Our result indicated that PLA2G6 mutations might not be a main cause of Chinese sporadic early-onset parkinsonism.

    Analysis of PLA2G6 gene mutation in sporadic early-onset parkinsonism patients from Chinese population.
    Tian JY, Tang BS, Shi CH, Lv ZY, Li K, Yu RL, Shen L, Yan XX, Guo JF.

    These data confirm the role of iPLA(2)beta as an essential mediator of endogenous store operated calcium entry.

    Overexpression of Orai1 and STIM1 proteins alters regulation of store-operated Ca2+ entry by endogenous mediators.
    Gwozdz T, Dutko-Gwozdz J, Schafer C, Bolotina VM., Free PMC Article

    This report further defines the clinical features and neuropathology of PLA2G6 related childhood and adult onset dystonia-parkinsonism .

    Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations.
    Paisán-Ruiz C, Li A, Schneider SA, Holton JL, Johnson R, Kidd D, Chataway J, Bhatia KP, Lees AJ, Hardy J, Revesz T, Houlden H., Free PMC Article

    acts as an inhibitory modulator of NKCC2 activity in thick ascending limb

    Group VIA phospholipase A2 is a target for vasopressin signaling in the thick ascending limb.
    Paliege A, Roeschel T, Neymeyer H, Seidel S, Kahl T, Daigeler AL, Mutig K, Mrowka R, Ferreri NR, Wilson BS, Himmerkus N, Bleich M, Bachmann S.

    PLA2G6 mutations are associated with PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease

    PLA2G6 mutations in PARK14-linked young-onset parkinsonism and sporadic Parkinson's disease.
    Lu CS, Lai SC, Wu RM, Weng YH, Huang CL, Chen RS, Chang HC, Wu-Chou YH, Yeh TH.

    A possible involvement of calcium-independent group VI phospholipase A2 (iPLA2-VI) in the pathogenesis of Parkinson's disease has been proposed.

    The PLA2G6 gene in early-onset Parkinson's disease.
    Kauther KM, Höft C, Rissling I, Oertel WH, Möller JC.

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