FKRP rabbit pAb

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]

Golgi apparatus membrane ; Single-pass type II membrane protein . Secreted . Cell membrane, sarcolemma . Rough endoplasmic reticulum . Cytoplasm . According to some studies the N-terminal hydrophobic domain is cleaved after translocation to the Golgi apparatus and the protein is secreted (PubMed:19900540) . Localization at the cell membrane may require the presence of dystroglycan (By similarity) . At the Golgi apparatus localizes to the middle-to-trans-cisternae, as assessed by MG160 colocalization. Detected in rough endoplasmic reticulum in myocytes (PubMed:17554798, PubMed:21886772) . In general, mutants associated with severe clinical phenotypes are retained within the endoplasmic reticulum (PubMed:15213246) . .