FKRP rabbit pAb

Sizes: 50μL, 100μL

Catalogue Numbers: ES7567-50, ES7567-100

Citations, Manuals and MSDS Available upon request.

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. [provided by RefSeq, Oct 2008],

Alternate Name: FKRP; Fukutin-related protein

Source: Rabbit

Applications: WB; IF; ELISA

Dilution: Western Blot: 1/500 - 1/2000. Immunofluorescence: 1/200 - 1/1000. ELISA: 1/20000. Not yet tested in other applications.

Reactivity: Human; Mouse; Rat

Immunogen: The antiserum was produced against synthesized peptide derived from human FKRP. AA range:1-50

Storage and Stability: -20°C/1 year

Clonality: Polyclonal

Isotype: IgG

Concentration: 1 mg/ml

Observed Band (KD): 50kD

Human Gene ID: 79147

Human SWISS Prot NO: Q9H9S5

Subcellular Location: 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).

Research Use Only