Rab proteins geranylgeranyltransferase component A 2 is an enzyme that in humans is encoded by the CHMLgene.[1][2]
The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina. CHML is localized close to the gene for Usher syndrome type II.[2]
↑van Bokhoven H, van den Hurk JA, Bogerd L, Philippe C, Gilgenkrantz S, de Jong P, Ropers HH, Cremers FP (January 1995). "Cloning and characterization of the human choroideremia gene". Hum Mol Genet. 3 (7): 1041–6. doi:10.1093/hmg/3.7.1041. PMID7981670.
↑ 3.03.1Anant, J S; Desnoyers L; Machius M; Demeler B; Hansen J C; Westover K D; Deisenhofer J; Seabra M C (September 1998). "Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex". Biochemistry. UNITED STATES. 37 (36): 12559–68. doi:10.1021/bi980881a. ISSN0006-2960. PMID9730828.
↑ 4.04.1Cremers, F P; Armstrong S A; Seabra M C; Brown M S; Goldstein J L (January 1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". J. Biol. Chem. UNITED STATES. 269 (3): 2111–7. ISSN0021-9258. PMID8294464.
Further reading
Cremers FP, Molloy CM, van de Pol DJ, et al. (1993). "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 (2): 71–5. doi:10.1093/hmg/1.2.71. PMID1301160.
Seabra MC, Ho YK, Anant JS (1995). "Deficient geranylgeranylation of Ram/Rab27 in choroideremia". J. Biol. Chem. 270 (41): 24420–7. doi:10.1074/jbc.270.41.24420. PMID7592656.
von Bokhoven H, von Genderen C, Molloy CM, et al. (1994). "Mapping of the choroideremia-like (CHML) gene at 1q42-qter and mutation analysis in patients with Usher syndrome type II". Genomics. 19 (2): 385–7. doi:10.1006/geno.1994.1077. PMID8188272.
Cremers FP, Armstrong SA, Seabra MC, et al. (1994). "REP-2, a Rab escort protein encoded by the choroideremia-like gene". J. Biol. Chem. 269 (3): 2111–7. PMID8294464.
Anant JS, Desnoyers L, Machius M, et al. (1999). "Mechanism of Rab geranylgeranylation: formation of the catalytic ternary complex". Biochemistry. 37 (36): 12559–68. doi:10.1021/bi980881a. PMID9730828.
Kasper G, Taudien S, Staub E, et al. (2003). "Different structural organization of the encephalopsin gene in man and mouse". Gene. 295 (1): 27–32. doi:10.1016/S0378-1119(02)00799-0. PMID12242008.
Pereira-Leal JB, Strom M, Godfrey RF, Seabra MC (2003). "Structural determinants of Rab and Rab Escort Protein interaction: Rab family motifs define a conserved binding surface". Biochem. Biophys. Res. Commun. 301 (1): 92–7. doi:10.1016/S0006-291X(02)02963-7. PMID12535645.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID15146197.
Oh JH, Yang JO, Hahn Y, et al. (2006). "Transcriptome analysis of human gastric cancer". Mamm. Genome. 16 (12): 942–54. doi:10.1007/s00335-005-0075-2. PMID16341674.
