|Immunohistochemistry (Paraffin) (IHC (P))||1:50-1:100|
|Western Blot (WB)||1:500-1:1000|
|Tested Species reactivity||Human|
|Host / Isotype||Rabbit / IgG|
|Immunogen||A synthetic peptide derived from the internal region of human CHML|
|Purification||Antigen affinity chromatography|
|Storage buffer||Dulbecco's PBS, pH 7.4, with 150mM NaCl, 50% glycerol|
|Contains||0.02% sodium azide|
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: choroideraemia-like protein; choroideremia-like (Rab escort protein 2); Choroideremia-like protein; Rab escort protein 2; Rab proteins geranylgeranyltransferase component A 2; REP-2; REP2
Gene Aliases: CHML; REP2
UniProt ID: (Human) P26374
Entrez Gene ID: (Human) 1122
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