CHM gene - Genetics Home Reference - NIH - escort protein mutation

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escort protein mutation - Choroideremia - Genetics Home Reference - NIH


Jun 01, 2009 · Keywords: Choroideremia, Rab escort protein 1, missense mutation, structural mechanism, protein destabilization. 1. Introduction. CHM is a chorioretinal degeneration with an X-linked pattern of inheritance. Affected males experience progressive atrophy of the choroid, retinal pigment epithelium and retina leading to eventual blindness.Cited by: 60. Dec 22, 2009 · Background. Choroideremia (CHM) is a progressive X-linked retinopathy caused by mutations in the CHM gene, which encodes Rab escort protein-1 (REP-1), an escort protein involved in the prenylation of Rabs. Under-prenylation of certain Rabs, as a result of loss of function mutations in REP-1, could affect vesicular trafficking, exocytosis and secretion in peripheral cells of CHM patients.Cited by: 35.

Rab escort protein 1 (REP1) also known as rab proteins geranylgeranyltransferase component A 1 is an enzyme that in humans is encoded by the CHM gene.Aliases: CHM, DXS540, GGTA, HSD-32, REP-1, TCD, . Jun 01, 2009 · Choroideremia (CHM) is a chorioretinal degeneration with an X-linked pattern of inheritance. Affected males experience progressive atrophy of the choroid, retinal pigment epithelium and retina leading to eventual blindness. The CHM gene encodes Rab escort protein 1 (REP-1). REP-1 is involved in trafficking of Rab proteins in the cell.Cited by: 60.

The CHM gene provides instructions for producing the Rab escort protein-1 (REP-1), which is active (expressed) throughout the body. As an escort protein, REP-1 attaches (binds) to one of a number of Rab proteins. Following a chemical modification, REP-1 then directs the Rab protein to the membrane of one of the cell's compartments (organelles). Mutations in the CHM gene cause choroideremia.The CHM gene provides instructions for producing the Rab escort protein-1 (REP-1). As an escort protein, REP-1 attaches to molecules called Rab proteins within the cell and directs them to the membranes of various cell compartments (organelles).Rab proteins are involved in the movement of proteins and organelles within cells (intracellular.