Rab escort protein 1
"Cloning and characterization of the human choroideremia gene".
Gray triangles other expression annotations only (e.g.
"Moderate discrimination of REP- 1 between Rab7 x GDP and Rab7 x GTP arises from a difference of an order of magnitude in dissociation rates".Phenotypes less, phenotype Summary 29 phenotypes from 5 alleles in 4 genetic backgrounds 11 phenotype references, phenotype Overview Phenotype Overview Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.Surv Ophthalmol, 54 (3 May-June 2009.CDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein.Reviewed August 18, 2014.For other disruptions however, heterozygous mice do survive and display depigmentation and degeneration of the retina.40 ( 1 26874.REP1 is a X-linked gene of 15 exons predicting a 2 protein of 653 amino acids.Retinal prostitution history united states gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial.
Rab Escort Protein 1 (REP1 rab proteins direct the vesicle to specific spots on the correct target membrane.
Donnelly P, Menet H, Fouanon C, Herbert O, Moisan JP, Le Roux MG, Pascal O (1994).
Mutations in the human REP1 gene result in Choroideremia, an Xlinked progressive orange county gay escort retinal degeneration (Xq21.2).
"The putative "switch 2" domain of the Ras-related GTPase, Rab1B, plays an essential role in the interaction with Rab escort protein "."Identification of mutations in Danish choroideremia families".Rab, gTPases need to be geranylgeranyled on either one or two cysteine residues in their, c-terminus to localize to the correct intracellular membrane."Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases".Maclaren RE, Groppe M, Barnard AR, Cottriall CL, Tolmachova T, Seymour L, Clark KR, During MJ, Cremers FP, Black GC, Lotery AJ, Downes SM, Webster AR, Seabra.
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