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.

Pack Size

100ul, 1ml, 20ul

Applications

ELISA, WB

Host Species

Rabbit

Ig Isotype

IgG

Antibody Type

Monoclonal Antibody

Organism Species

Human

Product Synonyms

CHM

Observed Mol Wt

73kDa

Alternative Names

TCD; GGTA; REP-1; DXS540; HSD-32; CHM

Immunogen (Antigen)

synthetic peptide

Format

Liquid

Buffer Formulation

0.05% BSA, 50% glycerol, PBS with 0.02% sodium azide, pH7.3

Reactivity

Human

Uniprot ID

1121

Gene ID

P24386

Potency (Clone Number)

ARC2736

Purification

Antigen-specific affinity chromatography followed by Protein A affinity chromatography

Usage

For Research Use Only. Not for diagnostics or human use.

Shelf Life

12 months at time of shipping

Shipping

Shipped in Dry Ice at -20 Degree Celsius

Storage

Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody.

Research Areas

Cancer, Cell Biology, Immunology, Neuroscience

KD/KO Validated

KD Validated

Disclaimer

The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use.

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