COL4A2

基因产物：Ⅳ型胶原α2链。

蛋白功能：是组成基底膜的重要成分。

相关疾病：脑小血管病2型（AD）[1]；脑出血（易感基因）[2]；脑穿通畸形囊肿[3]；脑裂畸形[4]。

突变数据库：ClinVar数据库。

讨论版块：点击进入COL4A2基因突变讨论版块。

参考文献

1. Meuwissen, M.E., et al., The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genet Med, 2015. 17(11): p. 843-53.
2. Jeanne, M., et al., COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Am J Hum Genet, 2012. 90(1): p. 91-101.
3. Zagaglia, S., et al., Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. Neurology, 2018. 91(22): p. e2078-e2088.
4. Itai, T., et al., Prenatal clinical manifestations in individuals with COL4A1/2 variants. J Med Genet, 2020.