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Gene Review:

Chm - choroideremia (Rab escort protein 1)

Rattus norvegicus

Synonyms: Choroideremia protein homolog, REP-1, Rab escort protein 1, Rab proteins geranylgeranyltransferase component A 1, Rep1

Tolmachova, T. et al., Nguyen, D. et al., Chan, D. et al., Andres, D.A. et al.

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Disease relevance of Chm

A genetic defect in REP underlies human choroideremia, a disease of retinal degeneration [1].
Choroideremia (CHM) is an X-linked retinal degenerative disease that results from mutations in Rab Escort Protein-1 (REP1) [2].

High impact information on Chm

In parotid, Rab3D is localized to secretory granule membranes or present in the cytosol as a complex with Rab escort protein [3].
When acinar cell cytosol was fractionated by gel filtration chromatography, Rab3D eluted exclusively with REP, not rab-GDI [4].
REP1 acts in the prenylation of Rab GTPases, regulators of intracellular protein trafficking [2].

References

cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein. Andres, D.A., Seabra, M.C., Brown, M.S., Armstrong, S.A., Smeland, T.E., Cremers, F.P., Goldstein, J.L. Cell (1993) [Pubmed]
Cloning, mapping and characterization of the human RAB27A gene. Tolmachova, T., Ramalho, J.S., Anant, J.S., Schultz, R.A., Huxley, C.M., Seabra, M.C. Gene (1999) [Pubmed]
Rab3D redistribution and function in rat parotid acini. Nguyen, D., Jones, A., Ojakian, G.K., Raffaniello, R.D., Ngyen, D. J. Cell. Physiol. (2003) [Pubmed]
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]

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AgaP_AGAP010419	Anopheles gambiae str. PEST
AgaP_AGAP012773	Anopheles gambiae str. PEST
CHM	Bos taurus
CHM	Canis lupus familiaris
Rep	Drosophila melanogaster
CHM	Gallus gallus
CHM	Homo sapiens
CHM	Macaca mulatta
Chm	Mus musculus
CHM	Pan troglodytes
chml	Xenopus (Silurana) tropicalis

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