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    MFSD2A MFSD2 lysolipid transporter A, lysophospholipid [ Homo sapiens (human) ]

    Gene ID: 84879, updated on 17-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Placental MFSD2A expression in fetal growth restriction and maternal and fetal DHA status.

    Placental MFSD2A expression in fetal growth restriction and maternal and fetal DHA status.
    Origüela V, Ferrer-Aguilar P, Gázquez A, Pérez-Cruz M, Gómez-Roig MD, Gómez-Llorente C, Larqué E.

    05/21/2024
    Investigation of the Binding Interaction of Mfsd2a with NEDD4-2 via Molecular Dynamics Simulations.

    Investigation of the Binding Interaction of Mfsd2a with NEDD4-2 via Molecular Dynamics Simulations.
    Yuan W, Qiu ZM, Li H, Huang M, Yuan JJ, Niu SL, Chen Q, Yang QW, Ouyang Q.

    01/29/2024
    Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2.

    Structural insights into the lysophospholipid brain uptake mechanism and its inhibition by syncytin-2.
    Martinez-Molledo M, Nji E, Reyes N.

    06/25/2022
    Mfsd2a overexpression alleviates vascular dysfunction in diabetic retinopathy.

    Mfsd2a overexpression alleviates vascular dysfunction in diabetic retinopathy.
    Zhang CL, Wang HL, Li PC, Hong CD, Chen AQ, Qiu YM, Zeng AP, Zhou YF, Hu B, Li YN.

    03/5/2022
    MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.

    MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.
    Khuller K, Yigit G, Martínez Grijalva C, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A.

    09/25/2021
    Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.

    Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.
    Scala M, Chua GL, Chin CF, Alsaif HS, Borovikov A, Riazuddin S, Riazuddin S, Chiara Manzini M, Severino M, Kuk A, Fan H, Jamshidi Y, Toosi MB, Doosti M, Karimiani EG, Salpietro V, Dadali E, Baydakova G, Konovalov F, Lozier E, O'Connor E, Sabr Y, Alfaifi A, Ashrafzadeh F, Striano P, Zara F, Alkuraya FS, Houlden H, Maroofian R, Silver DL., Free PMC Article

    06/19/2021
    Child Head Circumference and Placental MFSD2a Expression Are Associated to the Level of MFSD2a in Maternal Blood During Pregnancy.

    Child Head Circumference and Placental MFSD2a Expression Are Associated to the Level of MFSD2a in Maternal Blood During Pregnancy.
    Sánchez-Campillo M, Ruiz-Palacios M, Ruiz-Alcaraz AJ, Prieto-Sánchez MT, Blanco-Carnero JE, Zornoza M, Ruiz-Pastor MJ, Demmelmair H, Sánchez-Solís M, Koletzko B, Larqué E., Free PMC Article

    02/6/2021
    Mfsd2a: A Physiologically Important Lysolipid Transporter in the Brain and Eye.

    Mfsd2a: A Physiologically Important Lysolipid Transporter in the Brain and Eye.
    Wong BH, Silver DL.

    01/2/2021
    The prognostic value of major facilitator superfamily domain-containing protein 2A in patients with hepatocellular carcinoma.

    The prognostic value of major facilitator superfamily domain-containing protein 2A in patients with hepatocellular carcinoma.
    Xing S, Kan J, Su A, Liu QD, Wang K, Cai X, Dong J., Free PMC Article

    09/26/2020
    These findings suggest endothelial Mfsd2a as an important pathogenic mediator and supplementation with docosahexaenoic acid as a potential therapeutic option for Zika virus infection.

    Zika virus degrades the ω-3 fatty acid transporter Mfsd2a in brain microvascular endothelial cells and impairs lipid homeostasis.
    Zhou J, Chi X, Cheng M, Huang X, Liu X, Fan J, Xu H, Lin T, Shi L, Qin C, Yang W., Free PMC Article

    05/23/2020
    This study found a significant and progressive decline of MFSD2a levels in blood of Alzheimer's Disease patients (Control 0.83 +/- 0.13, GDS4 0.72 +/- 0.09, GDS6 0.48 +/- 0.05*, p < 0.01).

    Decreased Blood Level of MFSD2a as a Potential Biomarker of Alzheimer's Disease.
    Sánchez-Campillo M, Ruiz-Pastor MJ, Gázquez A, Marín-Muñoz J, Noguera-Perea F, Ruiz-Alcaraz AJ, Manzanares-Sánchez S, Antúnez C, Larqué E., Free PMC Article

    05/16/2020
    Two siblings with shared parental ancestry, in whom we identified a homozygous missense mutation (c.1205C > A; p.Pro402His) in MFSD2A. Both affected individuals had microcephaly, hypotonia, appendicular spasticity, dystonia, strabismus, and global developmental delay.

    Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination.
    Harel T, Quek DQY, Wong BH, Cazenave-Gassiot A, Wenk MR, Fan H, Berger I, Shmueli D, Shaag A, Silver DL, Elpeleg O, Edvardson S.

    09/28/2019
    Results suggest that major facilitator superfamily domain containing-2A (MFSD2A) might affect angiogenesis and inhibit gastric cancer (GC) development and progression, and may help predict prognosis and could be a therapeutic target in GC.

    MFSD2A expression predicts better prognosis in gastric cancer.
    Shi X, Huang Y, Wang H, Zheng W, Chen S.

    06/1/2019
    When compared with placental expression of other genes, alkaline phosphatase expression was positively related to genes including the lysophosphatidylcholine transporter MFSD2A (major facilitator superfamily domain containing 2A, P < 0.001) and negatively related to genes including the fatty acid transport proteins 2 and 3 (P = 0.001, P < 0.001).

    Relation of placental alkaline phosphatase expression in human term placenta with maternal and offspring fat mass.
    Hirschmugl B, Crozier S, Matthews N, Kitzinger E, Klymiuk I, Inskip HM, Harvey NC, Cooper C, Sibley CP, Glazier J, Wadsack C, Godfrey KM, Desoye G, Lewis RM., Free PMC Article

    05/25/2019
    In offspring of women with gestational diabetes mellitus treated either with diet or insulin, higher fetal fat accretion and lower placental MFSD2a contribute to reduce docosahexaenoic acid availability.

    Placental MFSD2a transporter is related to decreased DHA in cord blood of women with treated gestational diabetes.
    Prieto-Sánchez MT, Ruiz-Palacios M, Blanco-Carnero JE, Pagan A, Hellmuth C, Uhl O, Peissner W, Ruiz-Alcaraz AJ, Parrilla JJ, Koletzko B, Larqué E.

    03/3/2018
    Levels of DHA-derived epoxides are lower in colon tissues from patients with ulcerative colitis than healthy and resolving mucosa. Production of these metabolites by gut endothelium requires MFSD2A; endothelial progenitor cells that overexpress MFSD2A reduce colitis in mice.

    MFSD2A Promotes Endothelial Generation of Inflammation-Resolving Lipid Mediators and Reduces Colitis in Mice.
    Ungaro F, Tacconi C, Massimino L, Corsetto PA, Correale C, Fonteyne P, Piontini A, Garzarelli V, Calcaterra F, Della Bella S, Spinelli A, Carvello M, Rizzo AM, Vetrano S, Petti L, Fiorino G, Furfaro F, Mavilio D, Maddipati KR, Malesci A, Peyrin-Biroulet L, D'Alessio S, Danese S.

    11/18/2017
    The regulatory role of Mfsd2a deepens our knowledge of the function of the BBB, potentially contributing to the effective drug delivery in the treatments for neurodegenerative diseases, brain tumors, and life-threatening infections in the CNS

    Mfsd2a-based pharmacological strategies for drug delivery across the blood-brain barrier.
    Wang JZ, Xiao N, Zhang YZ, Zhao CX, Guo XH, Lu LM.

    12/17/2016
    MFSD2A transported structurally related acylcarnitines but not a lysolipid without a negative charge, demonstrating the necessity of a negatively charged headgroup interaction with Lys-436 for transport.

    Structural Insights into the Transport Mechanism of the Human Sodium-dependent Lysophosphatidylcholine Transporter MFSD2A.
    Quek DQ, Nguyen LN, Fan H, Silver DL., Free PMC Article

    11/12/2016
    MFSD2A mutations impair brain lipid transport activity.

    Inactivating mutations in MFSD2A, required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome.
    Guemez-Gamboa A, Nguyen LN, Yang H, Zaki MS, Kara M, Ben-Omran T, Akizu N, Rosti RO, Rosti B, Scott E, Schroth J, Copeland B, Vaux KK, Cazenave-Gassiot A, Quek DQ, Wong BH, Tan BC, Wenk MR, Gunel M, Gabriel S, Chi NC, Silver DL, Gleeson JG., Free PMC Article

    09/12/2015
    A homozygous mutation affecting a highly conserved MFSD2A residue (p.Ser339Leu) is associated with a progressive microcephaly syndrome characterized by intellectual disability, spasticity and absent speech.

    A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome.
    Alakbarzade V, Hameed A, Quek DQ, Chioza BA, Baple EL, Cazenave-Gassiot A, Nguyen LN, Wenk MR, Ahmad AQ, Sreekantan-Nair A, Weedon MN, Rich P, Patton MA, Warner TT, Silver DL, Crosby AH.

    09/12/2015
    Several tagging SNPs and haplotypes in TRIT1, MYCL1 and MFSD2A region are significantly associated with risk and clinicopathological features of gastric cancer in a Chinese population.

    Association of polymorphisms and haplotype in the region of TRIT1, MYCL1 and MFSD2A with the risk and clinicopathological features of gastric cancer in a southeast Chinese population.
    Chen S, Zheng Z, Tang J, Lin X, Wang X, Lin J.

    10/19/2013
    Importance of MFSD2a in trophoblast fusion and placenta development.

    MFSD2a, the Syncytin-2 receptor, is important for trophoblast fusion.
    Toufaily C, Vargas A, Lemire M, Lafond J, Rassart E, Barbeau B.

    06/15/2013
    SNP rs12072037 modulates MFSD2A promoter activity and thus might affect MFSD2A levels in normal lung and in lung tumors.

    A 5'-region polymorphism modulates promoter activity of the tumor suppressor gene MFSD2A.
    Colombo F, Falvella FS, Galvan A, Frullanti E, Kunitoh H, Ushijima T, Dragani TA., Free PMC Article

    12/10/2011
    MFSD2A is a putative Tunicamycin transporter at the plasma membrane.

    A haploid genetic screen identifies the major facilitator domain containing 2A (MFSD2A) transporter as a key mediator in the response to tunicamycin.
    Reiling JH, Clish CB, Carette JE, Varadarajan M, Brummelkamp TR, Sabatini DM., Free PMC Article

    10/8/2011
    MFSD2A is a novel lung cancer tumor suppressor gene that regulates cell cycle progression and matrix attachment.

    MFSD2A is a novel lung tumor suppressor gene modulating cell cycle and matrix attachment.
    Spinola M, Falvella FS, Colombo F, Sullivan JP, Shames DS, Girard L, Spessotto P, Minna JD, Dragani TA., Free PMC Article

    05/31/2010
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