CHM, Official Symbol CHMprovided by HGNC Official Full Name CHM Rab escort proteinprovided by HGNC Primary source HGNC:HGNC:1940 See related Ensembl:ENSG00000188419 MIM:300390; AllianceGenome:HGNC:1940 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as TCD; GGTA; REP-1; DXS540; HSD-32 Summary This gene encodes component A of the RAB geranylgeranyl transferase holoenzyme. In the dimeric holoenzyme, this subunit binds unprenylated Rab GTPases and then presents them to the catalytic Rab GGTase subunit for the geranylgeranyl transfer reaction. Rab GTPases need to be geranylgeranyled on either one or two cysteine residues in their C-terminus to localize to the correct intracellular membrane. Mutations in this gene are a cause of choroideremia; also known as tapetochoroidal dystrophy (TCD). This X-linked disease is characterized by progressive dystrophy of the choroid, retinal pigment epithelium and retina. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in brain (RPKM 4.7), thyroid (RPKM 4.5) and 25 other tissues See more Orthologs mouse all