FKRP, Official Symbol FKRPprovided by HGNC Official Full Name fukutin related proteinprovided by HGNC Primary source HGNC:HGNC:17997 See related Ensembl:ENSG00000181027 MIM:606596; AllianceGenome:HGNC:17997 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FKTR; MDC1C; LGMD2I; LGMDR9; MDDGA5; MDDGB5; MDDGC5 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] Expression Ubiquitous expression in placenta (RPKM 3.9), kidney (RPKM 3.4) and 25 other tissues See more Orthologs mouse all