Product Name :
CHML Peptide Applications :
Blocking Background :
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. Alternative Name :
Rab proteins geranylgeranyltransferase component A 2; Choroideremia-like protein; Rab escort protein 2; REP-2; REP2 Swiss-Prot :
P26374 Product :
1 mg/ml in DI water. Purification&Purity :
Synthetic peptide CHML. (Note: the amino acid sequence is proprietary). The purity is > 98%. Storage&Stability :
Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze-thaw cycles. Specificity :
This peptide can be used with studies using BS5889 CHML pAb.
CHML Peptide Applications :
Blocking Background :
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. Alternative Name :
Rab proteins geranylgeranyltransferase component A 2; Choroideremia-like protein; Rab escort protein 2; REP-2; REP2 Swiss-Prot :
P26374 Product :
1 mg/ml in DI water. Purification&Purity :
Synthetic peptide CHML. (Note: the amino acid sequence is proprietary). The purity is > 98%. Storage&Stability :
Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze-thaw cycles. Specificity :
This peptide can be used with studies using BS5889 CHML pAb.
Blocking peptide available as BS5889PP