FKRP Rabbit pAb

This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, cognitive disability, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. Synonyma: FKTR, MDC1C, LGMD2I, LGMDR9, MDDGA5, MDDGB5, MDDGC5, FKRP