Background: Newly synthesized Rab proteins are bound to Rab escort proteins (REP) and presented to the Rab geranylgeranyltransferase (GGTase) type II, which mediates the prenylation of Rab proteins on two carboxy terminal cysteine residues. Rab GGTase only recognizes Rab proteins as a substrate when they are bound to REP. REP remains complexed with Rab until it is transported to the appropriate subcellular membrane, although is it still unclear whether REP participates in this targeting. Two isoforms of the REP gene have been isolated, REP-1 and REP-2. The REP-1 gene, located on chromosome Xq21, is prone to a wide variety of mutations, including nonsense, frameshift and splice-site mutations and deletions. In patients with choroideraemia (CHM), mutations in the REP-1 gene result in progressive dystrophy of the choroid, retinal pigment epithelium and retina. CHM is an X-linked hereditary eye disease that leads to blindness later in life. REP-2 is able to bind to several Rab proteins with the same affinity as REP-1 and may act a substitute for REP-1 to prevent widespread tissue abnormalities in patients with CHM.
Description: Rabbit polyclonal to CHML
Immunogen: KLH conjugated synthetic peptide derived from CHML
Specificity: ·Reacts with Human, Mouse and Rat.
·Isotype: IgG
Application: ·Western blotting: 1/100-500. Predicted Mol wt: 74 kDa;
·Immunohistochemistry (Paraffin/frozen tissue section): 1/50-200;
·Immunocytochemistry/Immunofluorescence: 1/100;
·Immunoprecipitation: 1/50;
·ELISA: 1/500;
·Optimal working dilutions must be determined by the end user.
