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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for FKRP (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID79147
Official gene symbolFKRP
Full namefukutin related protein
Aliases,FLJ12576,LGMD2I,MDC1C,MGC2991,
Gene summaryThis 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]
LocationChromosome: 19   Locus: 19q13.32
Gene position47249303 - 47261832  Map Viewer
Gene orientationplus
Gene size12530 bp
Gene sequence
OMIM ID606596