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Merck

CHM

choroideremia (Rab escort protein 1)

Sinonimi:
DXS540, GGTA, HSD-32, REP-1, TCD
Specie:
ID UniProtKB:
ID gene:
  • 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

N° Catalogo
Descrizione
Reattività con
Applicazione
Anti-REP-1 Antibody, clone 2F1, clone 2F1, from mouse,
Reattività con
human
Applicazione
immunocytochemistry
immunohistochemistry

immunoprecipitation (IP)

western blot
Anti-CHM Antibody, clone 2F7W2, Rabbit Monoclonal, ,
Reattività con
human
Applicazione
western blot
Anti-CHM antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Reattività con
human
Applicazione
immunohistochemistry

esiRNA

N° Catalogo
Descrizione
Specie
MISSION® esiRNA, targeting mouse Chm,
Specie
mouse
MISSION® esiRNA, targeting human CHM (1),
Specie
human
MISSION® esiRNA, targeting human CHM (2),
Specie
human