基因产物:脆性X智力障碍1蛋白。
蛋白功能:在神经元的发育和突触可塑性中发挥重要作用。
相关疾病:脆性X染色体综合征(XLD),脆性X染色体相关震颤/共济失调综合征(XLD)[1];卵巢早衰1型(XL)[2]。
参考文献
- Jacquemont, S., et al., Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1.Lancet Neurol, 2007. 6(1): p. 45-55.
- Bretherick, K.L., M.R. Fluker, and W.P. Robinson, FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.Hum Genet, 2005. 117(4): p. 376-82.