RARA编码蛋白(视黄酸受体α)是一种在白细胞分化中起作用的转录因子。RARA与RXR核受体形成异源二聚体,并通过结合其配体而被激活。RARA通过与配体的结合导致构象变化,并招募组蛋白乙酰转移酶和染色质重塑ATPase以激活转录。RARA和PML的易位与急性早幼粒细胞白血病(APL)的发病机制有关。在APL中也观察到了与RARA基因发生易位的伴侣基因。在乳腺纤维上皮肿瘤中已观察到RARA突变。RARA在乳腺癌的一个子类中发生扩增,并且可以与雌激素受体相互作用。
RARA (retinoic acid receptor alpha) is a transcription factor that plays a role in the differentiation of white blood cells. RARA heterodimerizes with the RXR nuclear receptor and is activated by binding retinoid ligands. Binding of the ligand results in a conformational change and recruits histone acetyltransferases and chromatin remodeling ATPases that activate transcription. RARA signaling is involved in the development of multiple tissue types, hematopoiesis, and stem cell specification. Translocations between RARA and PML is implicated in the pathogenesis of acute promyelocytic leukemia (APL). The fusion protein confers sensitivity to targeted treatment with all-trans retinoic acid and arsenic trioxide. Other rarer translocations partners with RARA have also been observed in APL. The RARA gene can also be methylated and reduced in expression other leukemias. RARA mutations have been observed in breast fibroepithelial tumors. The gene is also amplified in a subset of breast cancers and can interact with the estrogen receptor.
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