FAM46C编码蛋白属于XXV核苷酸转移酶超家族的蛋白,并且作为非经典poly(A)聚合酶起作用。 FAM46C表达具有调节细胞周期进程,细胞分化的功能以及调节RAS /MAPK信号传导。在多发性骨髓瘤中检测到功能丧失的FAM46C突变和缺失,表明FAM46C是肿瘤抑制因子。FAM46C的突变或缺失与多发性骨髓瘤患者的总体存活率降低相关。 在患有多发性骨髓瘤的患者中也发现了MYC和FAM46C之间的重排。
FAM46C is a protein that belongs to the group XXV nucleotidyltransferase superfamily and functions as a non-canonical poly(A) polymerase. FAM46C expression has been shown to regulate cell cycle progression, cell differentiation, and regulation of RAS/MAPK signaling. Loss-of-function FAM46C mutations and deletions have been identified in multiple myeloma, suggesting that FAM46C is a tumor suppressor. Mutations or deletions in FAM46C are associated with reduced overall survival in patients with multiple myleoma. Rearrangements between MYC and FAM46C have also been found in patients with multiple myeloma.
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