Choroideremia antibody, N-term

GeneTex

Choroideremia antibody, N-term

9

WB: 0.2-2.5 ug/ml. *Optimal dilutions/concentrations should be determined by the researcher.Not tested in other applications.

Western Blot

Research Use Only

Polyclonal

0.5-1 mg/ml

Unconjugated

CHM

CHM Rab escort protein

CHM, Rab escort protein 1; choroideremia (Rab escort protein 1); DXS540; GGTA; HSD-32; rab proteins geranylgeranyltransferase component A 1; REP-1; TCD

Rabbit

IgG

Rab proteins geranylgeranyltransferase component A 1

This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

Human

-20°C or -80°C,2°C to 8°C

12352203