CHM Antibody

Product Specifications

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. Alternative splicing results in multiple transcript variants encoding different isoforms.

NCBI Gene ID

1121

Swiss Prot

P24386

Accession Number

P24386

Host

Rabbit

Reactivity

Human

Immunogen

This CHM antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 292-320 amino acids from the Central region of human CHM.

Clonality

Polyclonal

Conjugation

Unconjugated

Type

Primary Antibodies

Field of Research

Neuroscience, Signal Transduction

Purification

This antibody is purified through a protein A column, followed by peptide affinity purification.

Concentration

Batch dependent

Buffer

Supplied in PBS with 0.09% (W/V) sodium azide.

Modification

None

Shipping Conditions

Blue Ice

Storage Conditions

Store at 4˚ C for three months and -20˚ C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.