CHM Antibody

Catalog Number:

46491

Amount:

100μg

Price:

$319

Swiss-Prot No:

Swiss-Prot:P24386
NCBI Gene ID:1121
NCBI Protein:NP_000381

Form of Antibody:

Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.

Storage/Stability:

Immunogen:

Synthetic peptide corresponding to internal residues of human CHM

Purification:

Antigen affinity purification

Specificity/Sensitivity:

The antibody detects endogenous levels of total CHM protein.

Applications:

IHC

Background:

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.

References:

appl_detail:

Immunohistochemistry: 1: 20-100

Datasheet PDF