User:Marily Munoz-Serrano/Fukutin-related protein

Fukutin gene mutation
Fukutin-related protein (FKRP) are also known as FKRP_HUMAN, LGMD2I, MDC1C, MDDGA5, MDDGB5, and MDDGC5. FKRP can be located in the brain, cardiac muscles, and skeletal muscles, and in the cells it is found in the Golgi apparatus. The genomic location of FKRP gene is on chromosome 19. FKRP is a ribitol-5-phosphate glycosyltranferas e, which means that the the a helps create glycosidic linkages. In glycosylation of α-dystroglycan, sugar chain, it adds a ribitol-5-phosphate onto the M3 core O-mannosylation of α-dystroglycan to create O-linked mannosylation. Without this linkage α-dystroglycan will not function properly. There could be miss binding of the ribitol-5-phosphate to the α-dystroglycan due to mutations. These mutations have been found to be associated with congenital muscular dystrophy, dystroglycanopathies, and Walker-Warburg syndrome. The severity of these diseases are directly correlated to the amount of mutations occurring. Possible therapy options for FKRP mutations include small molecules, gene delivery, and cell therapy.