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    ABCB7 ATP binding cassette subfamily B member 7 [ Homo sapiens (human) ]

    Gene ID: 22, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Knockdown of ABCB7 inhibits esophageal cancer progression by inhibiting the TGF-beta/Smad signaling.

    Knockdown of ABCB7 inhibits esophageal cancer progression by inhibiting the TGF-β/Smad signaling.
    Feng S, Jia J, Lv G, Wang Y.

    06/13/2023
    Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome.

    Coordinated missplicing of TMEM14C and ABCB7 causes ring sideroblast formation in SF3B1-mutant myelodysplastic syndrome.
    Clough CA, Pangallo J, Sarchi M, Ilagan JO, North K, Bergantinos R, Stolla MC, Naru J, Nugent P, Kim E, Stirewalt DL, Subramaniam AR, Abdel-Wahab O, Abkowitz JL, Bradley RK, Doulatov S., Free PMC Article

    04/9/2022
    Expression, purification and microscopic characterization of human ATP-binding cassette sub-family B member 7 protein.

    Expression, purification and microscopic characterization of human ATP-binding cassette sub-family B member 7 protein.
    Nie Z, Yan Q, Shen Y, Yang X.

    12/25/2021
    Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation.

    Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)(4) cluster exporter and the molecular mechanism of an E433K disease-causing mutation.
    Pearson SA, Cowan JA., Free PMC Article

    02/6/2021
    ABCB7 simultaneously regulates apoptotic and non-apoptotic cell death by modulating mitochondrial ROS and HIF1alpha-driven NFkappaB signaling.

    ABCB7 simultaneously regulates apoptotic and non-apoptotic cell death by modulating mitochondrial ROS and HIF1α-driven NFκB signaling.
    Kim JY, Kim JK, Kim H.

    11/28/2020
    ABCB7 and ABCB10 homodimers form an architecturally defined molecular complex required for heme biosynthesis

    Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis.
    Maio N, Kim KS, Holmes-Hampton G, Singh A, Rouault TA., Free PMC Article

    08/1/2020
    data support a model in which cycloheximide -induced downregulation of the iron exporter ABCB7 mRNA transcript resulting from aberrant splicing caused by mutant SF3B1 underlies the increased mitochondrial iron accumulation found in MDS patients with ring sideroblasts

    Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1-mutant myelodysplastic syndromes.
    Dolatshad H, Pellagatti A, Liberante FG, Llorian M, Repapi E, Steeples V, Roy S, Scifo L, Armstrong RN, Shaw J, Yip BH, Killick S, Kušec R, Taylor S, Mills KI, Savage KI, Smith CW, Boultwood J., Free PMC Article

    08/19/2017
    A missense mutation in the ABCB7 is a major causative factor of the cerebellar hypoplasia/atrophy found in affected individuals of a Buryat family who had no evidence of sideroblastic anemia.

    Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.
    Protasova MS, Grigorenko AP, Tyazhelova TV, Andreeva TV, Reshetov DA, Gusev FE, Laptenko AE, Kuznetsova IL, Goltsov AY, Klyushnikov SA, Illarioshkin SN, Rogaev EI., Free PMC Article

    12/17/2016
    findings support that ABCB7 is implicated in the phenotype of acquired RARS and suggest a relation between SF3B1 mutations and ABCB7 downregulation

    The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts.
    Nikpour M, Scharenberg C, Liu A, Conte S, Karimi M, Mortera-Blanco T, Giai V, Fernandez-Mercado M, Papaemmanuil E, Högstrand K, Jansson M, Vedin I, Wainscoat JS, Campbell P, Cazzola M, Boultwood J, Grandien A, Hellström-Lindberg E., Free PMC Article

    06/8/2013
    We describe a fourth family with X-linked sideroblastic anemia and ataxia and a novel mutation in the ABCB7 gene

    X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation.
    D'Hooghe M, Selleslag D, Mortier G, Van Coster R, Vermeersch P, Billiet J, Bekri S.

    03/9/2013
    loss of the ABCB7 gene may be a pathogenetic factor underlying mitochondrial iron accumulation in RARS patients with idicXq13.

    Loss of ABCB7 gene: pathogenesis of mitochondrial iron accumulation in erythroblasts in refractory anemia with ringed sideroblast with isodicentric (X)(q13).
    Sato K, Torimoto Y, Hosoki T, Ikuta K, Takahashi H, Yamamoto M, Ito S, Okamura N, Ichiki K, Tanaka H, Shindo M, Hirai K, Mizukami Y, Otake T, Fujiya M, Sasaki K, Kohgo Y.

    07/2/2011
    Observational study of gene-disease association. (HuGE Navigator)

    Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
    Saito A, Kawamoto M, Kamatani N.

    04/29/2009
    ABCB7 may have a role in refractory anemia with ring sideroblasts

    The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts.
    Boultwood J, Pellagatti A, Nikpour M, Pushkaran B, Fidler C, Cattan H, Littlewood TJ, Malcovati L, Della Porta MG, Jädersten M, Killick S, Giagounidis A, Bowen D, Hellström-Lindberg E, Cazzola M, Wainscoat JS., Free PMC Article

    01/21/2010
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