Gene Symbol | FKRP |
Entrez Gene ID | 79147 |
Full Name | fukutin related protein |
Synonyms | LGMD2I,MDC1C,MDDGA5,MDDGB5,MDDGC5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Oct 2008]. |
Disorder MIM: | |
Disorder Html: | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3); Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612 (3); Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155 (3) |