CHM Chromosome X

CHM Rab escort protein

247 variants 247 Health Risk

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What This Gene Does

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]

Gene Info

Gene Group

"MicroRNA protein coding host genes|Rab geranylgeranyltransferase subunits"

Locus Type

gene with protein product

Location

Xq21.2

Ensembl

ENSG00000188419

Associated Conditions (13)

Inborn genetic diseases

Retinal dystrophy

Choroideremia

Abnormality of the eye

Night blindness

Chorioretinal atrophy

Retinitis pigmentosa

Nonpapillary renal cell carcinoma

Thyroid cancer

nonmedullary

CHM-related disorder

Salla type

Key Variants

RS11539374

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1326972655

Conflicting classifications of pathogenicity

Retinal dystrophy, Retinal dystrophy

Health Risk

RS140093046

Conflicting classifications of pathogenicity

Choroideremia, Inborn genetic diseases, Retinal dystrophy

Health Risk

RS140566714

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS145088557

Conflicting classifications of pathogenicity

Choroideremia, Inborn genetic diseases, Choroideremia

Health Risk

RS1556257626

Conflicting classifications of pathogenicity

Retinal dystrophy, Retinal dystrophy

Health Risk

RS2148153518

Conflicting classifications of pathogenicity

Choroideremia, Choroideremia

Health Risk

RS369829791

Conflicting classifications of pathogenicity

Choroideremia, Choroideremia

Health Risk

RS370399954

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS373242750

Conflicting classifications of pathogenicity

Choroideremia, Choroideremia

Health Risk

RS754548037

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS759127730

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

All Variants (247)

RSID	Category	Clinical Significance	Conditions
RS11539374	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS1326972655	Health Risk	Conflicting classifications of pathogenicity	Retinal dystrophy, Retinal dystrophy
RS140093046	Health Risk	Conflicting classifications of pathogenicity	Choroideremia, Inborn genetic diseases, Retinal dystrophy
RS140566714	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS145088557	Health Risk	Conflicting classifications of pathogenicity	Choroideremia, Inborn genetic diseases, Choroideremia
RS1556257626	Health Risk	Conflicting classifications of pathogenicity	Retinal dystrophy, Retinal dystrophy
RS2148153518	Health Risk	Conflicting classifications of pathogenicity	Choroideremia, Choroideremia
RS369829791	Health Risk	Conflicting classifications of pathogenicity	Choroideremia, Choroideremia
RS370399954	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS373242750	Health Risk	Conflicting classifications of pathogenicity	Choroideremia, Choroideremia
RS754548037	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS759127730	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS760000110	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS762479859	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS781060978	Health Risk	Conflicting classifications of pathogenicity	Retinal dystrophy, Retinal dystrophy
RS912390081	Health Risk	Conflicting classifications of pathogenicity	—
RS1057516265	Health Risk	Likely pathogenic	Choroideremia, Choroideremia
RS1057520629	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS1244003380	Health Risk	Likely pathogenic	Retinal dystrophy, Choroideremia, Retinal dystrophy
RS1555955061	Health Risk	Likely pathogenic	Retinal dystrophy, Abnormality of the eye, Choroideremia
RS1555968874	Health Risk	Likely pathogenic	Night blindness, Chorioretinal atrophy, Night blindness
RS1603288875	Health Risk	Likely pathogenic	Retinitis pigmentosa, Retinitis pigmentosa
RS1924181543	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS1927017073	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS1930082958	Health Risk	Likely pathogenic	—
RS1930421028	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS1930424354	Health Risk	Likely pathogenic	Choroideremia, Choroideremia
RS1930424797	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS1930435879	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS1930445401	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS1934693393	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS1934694621	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS2147665924	Health Risk	Likely pathogenic	—
RS2147791162	Health Risk	Likely pathogenic	Choroideremia, Choroideremia
RS2147819159	Health Risk	Likely pathogenic	—
RS2148126338	Health Risk	Likely pathogenic	Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS2520014655	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS2520014897	Health Risk	Likely pathogenic	—
RS2520028194	Health Risk	Likely pathogenic	Choroideremia, Choroideremia
RS2520098232	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS2520131629	Health Risk	Likely pathogenic	Choroideremia, Choroideremia
RS2520253188	Health Risk	Likely pathogenic	Choroideremia, Choroideremia
RS2520272719	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy, Retinal dystrophy
RS2520272868	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS2520273128	Health Risk	Likely pathogenic	Choroideremia, Choroideremia
RS2520273473	Health Risk	Likely pathogenic	Choroideremia, Choroideremia
RS2520865886	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS2520865940	Health Risk	Likely pathogenic	Choroideremia, Choroideremia
RS2520866183	Health Risk	Likely pathogenic	Choroideremia, Choroideremia
RS2520866393	Health Risk	Likely pathogenic	Choroideremia, Choroideremia

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