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Antibody detects endogenous levels of total FKRP.
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].
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Fukutin-related protein; Ribitol 5-phosphate transferase FKRP; Ribitol-5-phosphate transferase
基因别名: A830029B19Rik; AI842067; AI847300; FKRP; LGMD1I; LGMD2I; MDC1C; MDDGA5; MDDGB5; MDDGC5
UniProt ID: (Human) Q9H9S5, (Mouse) Q8CG64
Entrez Gene ID: (Human) 79147, (Mouse) 243853, (Rat) 308390