Background: |
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. |
Applications: |
WB |
Name of antibody: |
FKRP |
Immunogen: |
Synthesized peptide derived from N-terminal of human FKRP. |
Full name: |
fukutin related protein |
Synonyms: |
MDC1C; LGMD2I; MDDGA5; MDDGB5; MDDGC5 |
SwissProt: |
Q9H9S5 |
WB Predicted band size: |
55 kDa |
WB Positive control: |
Jurkat cells and COLO205 lysates |
WB Recommended dilution: |
500-3000 |