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Gene Review

Chm  -  choroidermia (RAB escort protein 1)

Mus musculus

Synonyms: Choroideremia protein homolog, REP-1, Rab escort protein 1, Rab proteins geranylgeranyltransferase component A 1, Rep-1, ...
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Disease relevance of Chm


High impact information on Chm

  • REP1 is involved in lipid modification (prenylation) of Rab GTPases, key regulators of intracellular vesicular transport and organelle dynamics [1].
  • Choroideremia (CHM) is an X-linked progressive eye disorder which results from defects in the human Rab escort protein-1 (REP-1) gene [3].
  • Computer homology searches have revealed sequence similarity of the divergent transcripts with bacterial genes involved in DNA mismatch repair, and we therefore have named the divergently transcribed gene Rep-1 [4].
  • During development, Rep-1 protein localization changes from a fairly diffuse pattern during embryogenesis to a more specific pattern at the time of retinal differentiation [5].

Analytical, diagnostic and therapeutic context of Chm

  • The localization of the Chm protein product, Rep-1, was determined spatially and temporally in the mouse retina by immunohistochemistry [5].
  • METHODS: CHM hemizygotes with REP-1 mutations, spanning an age range of 7 decades, were studied with in vivo microscopy by optical coherence tomography [6].


  1. Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. Tolmachova, T., Anders, R., Abrink, M., Bugeon, L., Dallman, M.J., Futter, C.E., Ramalho, J.S., Tonagel, F., Tanimoto, N., Seeliger, M.W., Huxley, C., Seabra, M.C. J. Clin. Invest. (2006) [Pubmed]
  2. Rapid degradation of dominant-negative Rab27 proteins in vivo precludes their use in transgenic mouse models. Ramalho, J.S., Anders, R., Jaissle, G.B., Seeliger, M.W., Huxley, C., Seabra, M.C. BMC Cell Biol. (2002) [Pubmed]
  3. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. van den Hurk, J.A., Hendriks, W., van de Pol, D.J., Oerlemans, F., Jaissle, G., Rüther, K., Kohler, K., Hartmann, J., Zrenner, E., van Bokhoven, H., Wieringa, B., Ropers, H.H., Cremers, F.P. Hum. Mol. Genet. (1997) [Pubmed]
  4. Dual bidirectional promoters at the mouse dhfr locus: cloning and characterization of two mRNA classes of the divergently transcribed Rep-1 gene. Linton, J.P., Yen, J.Y., Selby, E., Chen, Z., Chinsky, J.M., Liu, K., Kellems, R.E., Crouse, G.F. Mol. Cell. Biol. (1989) [Pubmed]
  5. Spatial and temporal expression patterns of the choroideremia gene in the mouse retina. Keiser, N.W., Tang, W., Wei, Z., Bennett, J. Mol. Vis. (2005) [Pubmed]
  6. Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations. Jacobson, S.G., Cideciyan, A.V., Sumaroka, A., Aleman, T.S., Schwartz, S.B., Windsor, E.A., Roman, A.J., Stone, E.M., MacDonald, I.M. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
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