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Choroideremia (CHM)

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DXS540; GGTA; HSD-32; REP-1; TCD; Rab Escort Protein 1; Rab Proteins Geranylgeranyltransferase Component A 1

Choroideremia (CHM)
CCC J377
HGNC 1940
MGI 892979
PubMed 23299470
RGD 2340
UniProt P24386
Wiki CHM
CHM 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Choroideremia (CHM) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Choroideremia (CHM) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Choroideremia (CHM) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Choroideremia (CHM) CLIA Kit Customized Service Offer
n/a ELISA Kit for Choroideremia (CHM) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Choroideremia (CHM) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Choroideremia (CHM) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Choroideremia (CHM) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Choroideremia (CHM) CLIA Kit Customized Service Offer
n/a ELISA Kit for Choroideremia (CHM) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Choroideremia (CHM) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Choroideremia (CHM) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Choroideremia (CHM) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Choroideremia (CHM) CLIA Kit Customized Service Offer
n/a ELISA Kit for Choroideremia (CHM) ELISA Kit Customized Service Offer
  1. "Cloning and characterization of the human choroideremia gene."Hum. Mol. Genet. 3:1041-1046(1994) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Isolation of a candidate gene for choroideremia."Proc. Natl. Acad. Sci. U.S.A. 89:2135-2139(1992) [PubMed] [Europe PMC] [Abstract]
  5. "Cloning of a gene that is rearranged in patients with choroideraemia."Nature 347:674-677(1990) [PubMed] [Europe PMC] [Abstract]
  6. "Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing."Am. J. Hum. Genet. 50:1195-1202(1992) [PubMed] [Europe PMC] [Abstract]
  7. "Analysis of choroideraemia gene."Nature 351:614-614(1991) [PubMed] [Europe PMC] [Abstract]
  8. "Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes."EMBO J. 13:5262-5273(1994) [PubMed] [Europe PMC] [Abstract]
  9. "Rab geranylgeranylation occurs preferentially via the pre-formed REP-RGGT complex and is regulated by geranylgeranyl pyrophosphate."Biochem. J. 415:67-75(2008) [PubMed] [Europe PMC] [Abstract]
  10. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  11. "Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase."Hum. Mutat. 32:1460-1469(2011) [PubMed] [Europe PMC] [Abstract]
  12. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  13. "Missense mutation in the choroideremia gene."Hum. Mol. Genet. 3:1017-1017(1994) [PubMed] [Europe PMC] [Abstract]
  14. "The functional effect of pathogenic mutations in Rab escort protein 1."Mutat. Res. 665:44-50(2009) [PubMed] [Europe PMC] [Abstract]