FKRP rabbit pAb

• 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]

• Description:

  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],

• UniProt:

  Q9H9S5

• Swiss Prot:

  Q9H9S5

• Reactivity:

  Human; Mouse; Rat

• Immunogen:

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

• Clonality:

  Polyclonal

• Source:

  Rabbit

• Applications:

  WB; IF; ELISA

• Concentration:

  1 mg/ml

• Dilution:

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

• Molecular Weight:

  50kD

• Storage Conditions:

  -20°C/1 year

• Observed Molecular Weight:

  50kD

• Fragment:

  IgG

• 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) . .

• Other Product Names:

  FKRP; Fukutin-related protein

• Gene ID (Human):

  79147