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anti-Human CHM Antibodies:
anti-Rat (Rattus) CHM Antibodies:
anti-Mouse (Murine) CHM Antibodies:
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Human Polyclonal CHM Primary Antibody for WB - ABIN1881197
Renner, Fiebig, Cropp, Weber, Kellner: Progression of retinal pigment epithelial alterations during long-term follow-up in female carriers of choroideremia and report of a novel CHM mutation. in Archives of ophthalmology 2009
Horse (Equine) Polyclonal CHM Primary Antibody for WB - ABIN2792245
Ishiguro, Yamamoto, Fujita, Akasu, Kobayashi, Moriya: Effect of a clinical pathway after laparoscopic surgery for colorectal cancer. in Hepato-gastroenterology 2008
Show all 2 Pubmed References
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.
choroideremia (Rab escort protein 1)
, Rab escort protein 1
, rab proteins geranylgeranyltransferase component A 2
, choroideremia protein
, rab proteins geranylgeranyltransferase component A 1
, choroideraemia protein homolog
, choroideremia protein homolog
, rab escort protein 1