Gene: CHM

Alternate names for this Gene: DXS540|GGTA|HSD-32|REP-1|TCD

Gene 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.

Gene is located in Chromosome: X

Location in Chromosome : Xq21.2

Description of this Gene: CHM Rab escort protein

Type of Gene: protein-coding

rs386833676 in CHM gene and Choroideremia PMID 1302003 1992 Aberrant splicing of the CHM gene is a significant cause of choroideremia.

PMID 7951216 1994 Missense mutation in the choroideremia gene.

PMID 19427510 2009 The functional effect of pathogenic mutations in Rab escort protein 1.

PMID 21905166 2011 Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.

PMID 16936131 2006 Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.

PMID 12203991 2002 Mutational analysis of patients with the diagnosis of choroideremia.

PMID 12827496 2003 Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.

PMID 10447648 1999 REP-1 gene mutations in Japanese patients with choroideremia.

rs886041178 in CHM gene and Retinitis Pigmentosa PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.