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CHM 产品

(Choroideremia (Rab Escort Protein 1) (CHM))

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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].

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Featured CHM Categories

CHM 抗体

High quality antibodies with extensive validation data.

CHM 蛋白

Proteins for various applications incl. WB, ELISA, IF etc.

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Latest Publications for our CHM Products

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, Vol. 127, Issue 7, pp. 907-12, (2009) (PubMed).

Ishiguro, Yamamoto, Fujita, Akasu, Kobayashi, Moriya: "Effect of a clinical pathway after laparoscopic surgery for colorectal cancer." in: Hepato-gastroenterology, Vol. 55, Issue 85, pp. 1315-9, (2008) (PubMed).

Synonyms and alternative names related to CHM

CHM, Rab escort protein 1 (CHM), choroideremia (Rab escort protein 1) (chm), choroideremia (Rab escort protein 1) L homeolog (chm.L), CHM, Rab escort protein 1 (Chm), choroidermia (RAB escort protein 1) (Chm), choroideremia (Rab escort protein 1) S homeolog (chm.S), CHM, chm, chm-a, chm-b, chml, DKFZp459K2154, DXS540, dxs540, GGTA, ggta, HSD-32, hsd-32, MGC68578, REP-1, rep-1, Rep-1, REP1, TCD, tcd

Protein level used designations for CHM

  • choroideremia (Rab escort protein 1)
  • choroideremia
  • Rab escort protein 1
  • rab proteins geranylgeranyltransferase component A 2
  • choroideremia protein
  • rab proteins geranylgeranyltransferase component A 1
  • REP-1
  • choroideraemia protein homolog
  • choroideremia protein homolog
  • choroidermia
  • rab escort protein 1
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