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Choroideremia Like Protein (CHML)

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REP2; Rab Escort Protein 2; Rab proteins geranylgeranyltransferase component A 2

Choroideremia Like Protein (CHML)
CCC J378
HGNC 1941
MGI 101913
PubMed 10652570
RGD 1596201
UniProt P26374
Wiki CHML
Using the mouse homolog of the human choroideremia cDNA as a probe, Cremers et al. (1992) identified a homologous human gene, which they designated CHML for choroideremia-like. The cDNA encompassed an open reading frame of 1,968 bp.
The product of the CHML gene, REP2, supports geranylgeranylation of most Rab proteins and may substitute for REP1 in tissues other than retina.Using semisynthetic fluorescent RAB27A, Rak et al. (2004) demonstrated that although RAB27A can be prenylated by REP2, this reaction can be effectively inhibited by other RAB proteins, providing a possible explanation for the accumulation of unprenylated RAB27A in choroideremia resulting from REP1 deficiency.

Organism species: Homo sapiens (Human)

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

Organism species: Mus musculus (Mouse)

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

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Choroideremia Like Protein (CHML) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Choroideremia Like Protein (CHML) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Choroideremia Like Protein (CHML) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Choroideremia Like Protein (CHML) CLIA Kit Customized Service Offer
n/a ELISA Kit for Choroideremia Like Protein (CHML) ELISA Kit Customized Service Offer
  1. "An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q."Hum. Mol. Genet. 1:71-75(1992) [PubMed] [Europe PMC] [Abstract]
  2. "Different structural organization of the encephalopsin gene in man and mouse."Gene 295:27-32(2002) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  5. "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]
  6. "REP-2, a Rab escort protein encoded by the choroideremia-like gene."J. Biol. Chem. 269:2111-2117(1994) [PubMed] [Europe PMC] [Abstract]
  7. "Expression of mammalian Rab Escort protein-1 and -2 in yeast Saccharomyces cerevisiae."Protein Expr. Purif. 26:50-58(2002) [PubMed] [Europe PMC] [Abstract]
  8. "Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease."Cell 117:749-760(2004) [PubMed] [Europe PMC] [Abstract]
  9. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  10. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]