CHM Recombinant Rabbit Monoclonal Antibody [JE61-83] (HA720064)

UNIPROT #

P24386

PROTEIN NAME

CHM

SYNONYMS

CHM antibody;Chm antibody;Choroideraemia protein antibody;Choroideremia antibody;DXS540 antibody;FLJ38564 antibody;GGTA antibody;HSD 32 antibody;MGC102710 antibody;Rab escort protein 1 antibody;Rab geranylgeranyltransferase component A antibody;Rab proteins geranylgeranyltransferase component A 1 antibody;RAE1_HUMAN antibody;REP 1 antibody;REP-1 antibody;REP1 antibody;TCD antibody;TCD protein antibody

SUBCELLULAR LOCATION

Cytosol.

FUNCTION

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. Besides, a pre-formed complex consisting of CHM and the Rab GGTase dimer (RGGT or component B) can bind to and prenylate Rab proteins; this alternative pathway is proposed to be the predominant pathway for Rab protein geranylgeranylation.