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].1) Kawahara, G., et al. Hum. Mol. Genet. 19(4):623-633(2010)
Immunogen
This FKRP antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 237-265 amino acids from the Central region of human FKRP.
Western blot analysis in HL-60 cell line lysates (35ug/lane).
Application Notes
For WB starting dilution is: 1:1000:
Additional Information
Form
Liquid
Storage Instructions
Store at 4˚C for three months and -20˚C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.