基因产物:Fukutin相关蛋白。
蛋白功能:在脑发育早期细胞迁移过程中有重要意义。
相关疾病:伴眼和脑异常的先天性肌营养不良-抗肌萎缩相关糖蛋白病(AR)[1];伴或不伴精神发育迟滞的先天性肌营养不良-抗肌萎缩相关糖蛋白病(AR)[2];肢带型肌营养不良-抗肌萎缩相关糖蛋白病(AR)[3]。
参考文献
- Beltran-Valero de Bernabe, D., et al., Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome.J Med Genet, 2004. 41(5): p. e61.
- Louhichi, N., et al., New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.Neurogenetics, 2004. 5(1): p. 27-34.
- Driss, A., et al., Fukutin-related protein gene mutated in the original kindred limb-girdle MD 2I.Neurology, 2003. 60( 8 ): p. 1341-4.