CHM Chromosome X
CHM Rab escort protein
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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
1
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 |
|---|---|---|---|
| RS2520867051 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS397514603 | Health Risk | Likely pathogenic | Choroideremia, Choroideremia |
| RS753991568 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS897855683 | Health Risk | Likely pathogenic | Choroideremia, Choroideremia |
| RS1057517714 | Health Risk | Pathogenic | Choroideremia, Choroideremia |
| RS1057517715 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1057517716 | Health Risk | Pathogenic | — |
| RS1057517717 | Health Risk | Pathogenic | — |
| RS1057520765 | Health Risk | Pathogenic | — |
| RS132630263 | Health Risk | Pathogenic | Choroideremia, Choroideremia |
| RS132630264 | Health Risk | Pathogenic | Choroideremia, Retinal dystrophy, Choroideremia |
| RS132630265 | Health Risk | Pathogenic | Choroideremia, Choroideremia |
| RS132630266 | Health Risk | Pathogenic | Choroideremia, Retinal dystrophy, Thyroid cancer |
| RS132630267 | Health Risk | Pathogenic | Choroideremia, Choroideremia |
| RS1357495676 | Health Risk | Pathogenic | — |
| RS1360735193 | Health Risk | Pathogenic | — |
| RS1398113537 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1433745760 | Health Risk | Pathogenic | — |
| RS1465232657 | Health Risk | Pathogenic | — |
| RS1555958073 | Health Risk | Pathogenic | Choroideremia, Choroideremia |
| RS1555972050 | Health Risk | Pathogenic | — |
| RS1556191599 | Health Risk | Pathogenic | — |
| RS1556217900 | Health Risk | Pathogenic | Choroideremia, Nonpapillary renal cell carcinoma, Choroideremia |
| RS1556277815 | Health Risk | Pathogenic | Choroideremia, CHM-related disorder, Choroideremia |
| RS1556307648 | Health Risk | Pathogenic | — |
| RS1556307713 | Health Risk | Pathogenic | Choroideremia, Choroideremia |
| RS1603236385 | Health Risk | Pathogenic | Choroideremia, Choroideremia |
| RS1603244482 | Health Risk | Pathogenic | — |
| RS1603244690 | Health Risk | Pathogenic | Choroideremia, Choroideremia |
| RS1603262410 | Health Risk | Pathogenic | Choroideremia, Choroideremia |
| RS1603264410 | Health Risk | Pathogenic | Choroideremia, Choroideremia |
| RS1603264449 | Health Risk | Pathogenic | Choroideremia, Choroideremia |
| RS1603288794 | Health Risk | Pathogenic | — |
| RS1603288815 | Health Risk | Pathogenic | Choroideremia, Choroideremia |
| RS1603288832 | Health Risk | Pathogenic | Choroideremia, Choroideremia |
| RS1702025708 | Health Risk | Pathogenic | — |
| RS1924186486 | Health Risk | Pathogenic | — |
| RS1924190333 | Health Risk | Pathogenic | — |
| RS1924193863 | Health Risk | Pathogenic | Choroideremia, Retinal dystrophy, Choroideremia |
| RS1924195176 | Health Risk | Pathogenic | — |
| RS1924595442 | Health Risk | Pathogenic | — |
| RS1924597556 | Health Risk | Pathogenic | — |
| RS1926202120 | Health Risk | Pathogenic | Choroideremia, Choroideremia |
| RS1926207659 | Health Risk | Pathogenic | — |
| RS1926208067 | Health Risk | Pathogenic | Retinal dystrophy, CHM-related disorder, Retinal dystrophy |
| RS1926208868 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1926253608 | Health Risk | Pathogenic | — |
| RS1926263167 | Health Risk | Pathogenic | — |
| RS1926267493 | Health Risk | Pathogenic | — |
| RS1927008194 | Health Risk | Pathogenic | — |