基因产物：G蛋白亚单位β1。

蛋白功能：属于G蛋白（异源三聚鸟嘌呤核苷酸结合蛋白）复合物中的一个组成部分，可将跨膜受体接收到的细胞外信号转导给细胞内的效应蛋白。

相关疾病：常染色体显性遗传智力低下42型（AD）（部分患儿可表现为 West 综合征 ）[1，2]；急性淋巴细胞白血病（体细胞突变）[3]；骨髓增生异常综合征（体细胞突变）[3]。

相关临床研究：PubMed数据库（PMID:  27108799 (Am J Hum Genet. 2016) ; PMID:  31735425 (Brain Dev. 2020) ）  


参考文献

1. Petrovski, S., et al., Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. Am J Hum Genet, 2016. 98(5): p. 1001-1010.
2. Endo, W., et al., Phenotype-genotype correlations in patients with GNB1 gene variants, including the first three reported Japanese patients to exhibit spastic diplegia, dyskinetic quadriplegia, and infantile spasms. Brain Dev, 2020. 42(2): p. 199-204.
3. Yoda, A., et al., Mutations in G protein beta subunits promote transformation and kinase inhibitor resistance. Nat Med, 2015. 21(1): p. 71-5.