NCIt synonyms : GGTA; DXS540; HSD-32; REP1; TCD; Rab Escort Protein 1 Gene; CHM, Rab Escort Protein 1 Gene; RAB GG Transferase A Gene; Choroideremia (Rab Escort Protein 1) Gene; REP-1; CHM Rab Escort Protein wt Allele; RAB Geranylgeranyltransferase, Component A Gene;
NCIt definition : Human CHM wild-type allele is located in the vicinity of Xq21.2 and is approximately
186 kb in length. This allele, which encodes Rab proteins geranylgeranyltransferase
component A 1 protein, plays a role in the regulation of geranylgeranyltransferase
activity. Mutations of the gene are associated with choroideremia.;