CHM
choroideremia (Rab escort protein 1)
Synonymes:
DXS540, GGTA, HSD-32, REP-1, TCD
Espèce(s):
Human CHM (1121), Mouse Chm (12662), Rat Chm (24942), naked mole-rat Chm (101697357), domestic guinea pig Chm (100728618), sheep CHM (101102290), Zebrafish chm (402935), chicken CHM (422266), dog CHM (480972), domestic cat CHM (101095320) ...Plus
ID UniProtKB:
ID du gène:
- Human(1121) Summary: 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.[provided by RefSeq, Feb 2009]
- Mouse(12662) choroidermia
- Rat(24942) choroideremia (Rab escort protein 1)
- naked mole-rat(101697357) choroideremia (Rab escort protein 1)
- domestic guinea pig(100728618) choroideremia (Rab escort protein 1)
- sheep(101102290) choroideremia (Rab escort protein 1)
- Zebrafish(402935) choroideremia (Rab escort protein 1)
- chicken(422266) choroideremia (Rab escort protein 1)
- dog(480972) choroideremia (Rab escort protein 1)
- domestic cat(101095320) choroideremia (Rab escort protein 1)
- Horse(100072281) choroideremia (Rab escort protein 1)
- cow(519552) choroideremia (Rab escort protein 1)
- fruit fly(43928) chameau
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Antibodies
Référence du produit
Description
Espèces réactives
Application
Anti-REP-1 Antibody, clone 2F1, clone 2F1, from mouse,
Espèces réactives
human
Application
immunocytochemistry
immunohistochemistry
immunoprecipitation (IP)
western blot
immunohistochemistry
immunoprecipitation (IP)
western blot
Anti-CHM Antibody, clone 2F7W2, Rabbit Monoclonal, ,
Espèces réactives
human
Application
western blot
Anti-CHM antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Espèces réactives
human
Application
immunohistochemistry