B-cell lymphoma/leukemia 11A is a protein that in humans is encoded by the BCL11A gene. [5][6][7] The BCL11A gene encodes for a regulatory C2H2 type zinc-finger protein, that can bind to the DNA. Five alternatively spliced transcript variants of this gene, which encode distinct isoforms, have been reported. [7] .

2024年12月24日 · BCL11A (BCL11 Transcription Factor A) is a Protein Coding gene. Diseases associated with BCL11A include Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin and Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome.

2019年11月29日 · Transcription factor B-cell lymphoma/leukemia 11A (BCL11A) gene encodes a zinc-finger protein that is predominantly expressed in brain and hematopoietic tissue. BCL11A functions mainly as a transcriptional repressor that is crucial in brain, hematopoietic system development, as well as fetal-to-adult hemoglobin switching.

Chromosomal aberrations involving BCL11A are associated with B-cell malignancies. Translocation t (2;14) (p13;q32.3) causes BCL11A deregulation and overexpression.

2021年1月21日 · BCL11A is a repressor of γ-globin expression and HbF production in adult erythrocytes. Its down-regulation is a promising therapeutic strategy for induction of HbF. Methods: We enrolled patients with sickle cell disease in a single-center, open-label pilot study.

BCL11A是成人红细胞中γ珠蛋白表达和HbF产生的抑制因子，它的下调是诱导HbF的有潜力的治疗策略。 2020年12月5日，美国哈佛医学院David A. Williams团队在《NEJM》上在线发表了一篇题为“Post-Transcriptional Genetic Silencing of BCL11A to Treat Sickle Cell Disease”的文章，研究了BCL11A转录后基因沉默治疗镰状细胞病的疗效。 研究组进行了一项单中心、开放标签的先导研究，纳入镰状细胞病患者。 在2018年2月至2020年3月期间，6名患者 (入组时年龄7至25岁)接受 …

2022年8月18日 · Reactivation of fetal hemoglobin expression by the downregulation of BCL11A is a promising treatment for β-hemoglobinopathies. A detailed understanding of BCL11A-mediated repression of γ-globin gene (HBG1/2) transcription is lacking, as studies to date used perturbations by shRNA or CRISPR-Cas9 gene editing.

2024年8月16日 · FUNCTION: Functions as a myeloid and B-cell proto-oncogene. May play important roles in leukemogenesis and hematopoiesis. An essential factor in lymphopoiesis, is required for B-cell formation in fetal liver. May function as a modulator of the transcriptional repression activity of ARP1 (By similarity).

B细胞淋巴瘤/白血病11A (BCL11A)是位于人类2号染色体短臂上的一个编码锌指蛋白转录因子的基因，主要调控胎儿型血红蛋白向成人血红蛋白转换的过程，在血液系统疾病的发生发展中起着 …

2025年2月8日 · Gene ID: 53335, updated on 8-Feb-2025. This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6.