SMARCA4是抑癌基因，编码蛋白是一种ATP依赖性的解旋酶，其是SWI/SNF染色质重塑复合物的催化亚基。这种复合物在改变染色质结构中起着重要作用，染色质结构是各种细胞功能所必需的过程，包括转录、DNA合成和DNA修复。继ARID1A之后，SMARCA4是SWI/SNF亚基中最频繁的突变基因，并且在恶性横纹肌样肿瘤、淋巴瘤、成神经管细胞瘤、肺癌和卵巢癌中显著改变。SMARCA4胚系突变易患小儿非典型畸胎瘤/横纹肌样瘤（AT / RT）和卵巢小细胞癌、高钙血症型（SCCOHT）。几乎所有的SCCOHT病例都有SMARCA4基因突变，被认为是发病的驱动基因。

The SMARCA4 gene encodes an ATP-dependent helicase that is a catalytic subunit of the SWI/SNF chromatin remodeling complex. This complex plays a role in altering chromatin structure, a process that is necessary for various cellular functions, including transcription, DNA synthesis and DNA repair. Secondary to ARID1A, SMARCA4 is the most frequently mutated gene among the SWI/SNF subunits and is significantly altered in malignant rhabdoid tumors, lymphoma, medulloblastoma, lung and ovarian cancer. Mutations in the SMARCA4 gene result in loss of function, suggesting its tumor suppressor properties. Germline SMARCA4 mutations predispose to pediatric atypical teratoid/rhabdoid tumors (AT/RT) and small cell carcinoma of the ovaries, hypercalcemic type (SCCOHT). Almost all SCCOHT cases have mutations in the SMARCA4 gene. In the majority of cases this is the only mutation present, and thus thought to be a driver mutation for this disease.

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