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Gene Review

CHML  -  choroideremia-like (Rab escort protein 2)

Homo sapiens

Synonyms: Choroideremia-like protein, REP-2, REP2, Rab escort protein 2, Rab proteins geranylgeranyltransferase component A 2
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Disease relevance of CHML


High impact information on CHML

  • Using semisynthetic fluorescent Rab27A, we demonstrate that although Rab27A can be prenylated by REP-2, this reaction can be effectively inhibited by other Rab proteins, providing a possible explanation for the accumulation of unprenylated Rab27A in choroideremia [4].
  • The consensus cDNA of this gene, designated human choroideremia-like (hCHML) gene, encompasses an open reading frame of 1968 base pairs [2].
  • Using recombinant Rab geranylgeranyl transferase and REPs to label unprenylated cytosolic proteins, we identified one unprenylated protein in choroideremia lymphoblasts that was prenylated in vitro more efficiently by REP-1 than by REP-2 [5].
  • Membrane-associated REP-2 did not colocalize with Rab3D on secretory granule membranes [6].
  • Isoproterenol, an agent which induces amylase release from parotid glands, caused a shift in both REP-2 and Rab3D to less dense membrane fractions [6].

Biological context of CHML


Associations of CHML with chemical compounds

  • Colocalization of Rab3D and REP-2 on acinar cell membranes suggests that REP-2 plays a role in delivering Rab3D to parotid membranes and may regulate guanine nucleotide binding to membrane-associated Rab3D [6].
  • We previously showed that two major cysteine endopeptidases, REP-1 and REP-2, were present in germinated rice ( Oryza sativa L.) seeds, and that REP-1 was the enzyme that digests seed storage proteins [8].
  • Two major endopeptidases, REP-1 and REP-2, were present in the 40-75% saturated ammonium sulfate fraction from day-9 germinated seeds, and could be separated by hydrophobic column chromatography [9].

Other interactions of CHML


Analytical, diagnostic and therapeutic context of CHML


  1. REP-2, a Rab escort protein encoded by the choroideremia-like gene. Cremers, F.P., Armstrong, S.A., Seabra, M.C., Brown, M.S., Goldstein, J.L. J. Biol. Chem. (1994) [Pubmed]
  2. An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q. Cremers, F.P., Molloy, C.M., van de Pol, D.J., van den Hurk, J.A., Bach, I., Geurts van Kessel, A.H., Ropers, H.H. Hum. Mol. Genet. (1992) [Pubmed]
  3. Pitfalls in the use of random amplified polymorphic DNA (RAPD) for fingerprinting of gram negative organisms. Gao, Z., Jackson, K.M., Leslie, D.E. Pathology. (1996) [Pubmed]
  4. Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease. Rak, A., Pylypenko, O., Niculae, A., Pyatkov, K., Goody, R.S., Alexandrov, K. Cell (2004) [Pubmed]
  5. Deficient geranylgeranylation of Ram/Rab27 in choroideremia. Seabra, M.C., Ho, Y.K., Anant, J.S. J. Biol. Chem. (1995) [Pubmed]
  6. Expression and localization of rab escort protein isoforms in parotid acinar cells from rat. Chan, D., Lin, J., Raffaniello, R.D. J. Cell. Physiol. (2000) [Pubmed]
  7. Characterization of a novel human opsin gene with wide tissue expression and identification of embedded and flanking genes on chromosome 1q43. Halford, S., Freedman, M.S., Bellingham, J., Inglis, S.L., Poopalasundaram, S., Soni, B.G., Foster, R.G., Hunt, D.M. Genomics (2001) [Pubmed]
  8. Identification, cDNA cloning and possible roles of seed-specific rice asparaginyl endopeptidase, REP-2. Kato, H., Sutoh, K., Minamikawa, T. Planta (2003) [Pubmed]
  9. Identification and characterization of a rice cysteine endopeptidase that digests glutelin. Kato, H., Minamikawa, T. Eur. J. Biochem. (1996) [Pubmed]
  10. Expression of mammalian Rab Escort protein-1 and -2 in yeast Saccharomyces cerevisiae. Sidorovitch, V., Niculae, A., Kan, N., Ceacareanu, A.C., Alexandrov, K. Protein Expr. Purif. (2002) [Pubmed]
  11. Use of different PCR-based DNA fingerprinting techniques and pulsed-field gel electrophoresis to investigate the epidemiology of Acinetobacter calcoaceticus-Acinetobacter baumannii complex. Liu, P.Y., Wu, W.L. Diagn. Microbiol. Infect. Dis. (1997) [Pubmed]
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