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.
仕様
Synonyms：CHM,Chm,Choroideraemia protein,Choroideremia,DXS540,FLJ38564,GGTA,HSD 32,MGC102710,Rab escort protein 1,Rab geranylgeranyltransferase component A,Rab proteins geranylgeranyltransferase component A 1,RAE1,REP 1,REP-1,REP1,TCD,TCD protein
Host：Rabbit
Reactivity：Human
Applications：WB
Concentration：1mg/ml
Immunogen：Recombinant protein of human CHM
Purification Method：Affinity purification
Clonality：Polyclonal
Conjugation：Unconjugated
Buffer：Buffer： PBS with 0.02％ sodium azide, 50％ glycerol, pH7.3.
Dilution：WB1：500 - 1：2000
Gene_ID（human）：1121
Swissprot：P24386
Isotype：IgG
Research Areas：Cancer, Neuroscience, Signal transduction
