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Few cases of liver, stomach and lung cancers showed weak to moderate cytoplasmic immunoreactivity. Few ovarian cancers were moderate to strongly stained. Remaining cancer tissues were generally negative.
GENE INFORMATION
Gene name
FKRP (HGNC Symbol)
Synonyms
LGMD2I, MDC1C
Description
Fukutin related protein (HGNC Symbol)
Entrez gene 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, 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]