COL4A1

基因产物：Ⅳ型胶原α1链。

蛋白功能：是组成基底膜的重要成分。

相关疾病：视网膜动脉迂曲（AD）[1]；遗传性血管病伴肾病、动脉瘤和肌肉痉挛（AD）[2]；脑小血管病伴或不伴眼畸形（AD）[3]；常染色体显性遗传脑桥微血管病和白质脑病（AD）[4]；脑出血（易感基因）[5]；脑穿通畸形囊肿[6]；脑裂畸形[7]。

突变数据库：ClinVar数据库。

讨论版块：点击进入COL4A1基因突变讨论版块。

参考文献

1. Zenteno, J.C., et al., Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.Graefes Arch Clin Exp Ophthalmol, 2014. 252(11): p. 1789-94.
2. Plaisier, E., et al., Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain.Am J Med Genet A, 2010. 152A(10): p. 2550-5.
3. Sibon, I., et al., COL4A1 mutation in Axenfeld-Rieger anomaly with leukoencephalopathy and stroke.Ann Neurol, 2007. 62(2): p. 177-84.
4. Verdura, E., et al., Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.Ann Neurol, 2016. 80(5): p. 741-753.
5. Weng, Y.C., et al., COL4A1 mutations in patients with sporadic late-onset intracerebral hemorrhage.Ann Neurol, 2012. 71(4): p. 470-7.
6. Zagaglia, S., et al., Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. Neurology, 2018. 91(22): p. e2078-e2088.
7. Itai, T., et al., Prenatal clinical manifestations in individuals with COL4A1/2 variants. J Med Genet, 2020.