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.
Applications:Suitable for use in Western Blot, Immunohistochemistry.
Other applications not tested.
Recommended Dilution:Western Blot: 1:500-1:1000Immunohistochemistry: 1:50-1:200Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：50ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid PBS, 0.05% sodium azide, pH 7.2.
Specificity：Recognizes endogenous levels of CHML. Species Crossreactivity: Human, mouse, rat
Isotype：IgG
Calc Applications Abbrev：IHC WB
Calc Crossreactivity：Hu Mo Rt
Immunogen：Synthetic peptide corresponding to amino acids 170-215 of Human CHML.
