Description
Product Characteristics: Fkrp could be a transferase involved in the modification of glycan moieties of alpha-dystroglycan (DAG1). Synonyms: Polyclonal Fkrp antibody, Anti-Fkrp antibody, fukutin related protein antibody, A830029B19Rik antibody, AI842067 antibody, AI847300 antibody, LGMD1I antibody, MDC1C antibody.
Target Information: 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, mental retardation, 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. [provided by RefSeq, Oct 2008]