Choroideremia: genes and variants
Choroideremia is linked to 1 analyzed protein (CHM). 1 DNA variants are known to cause it; 12 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Choroideremia
CHM: Rab proteins geranylgeranyltransferase component A 1
It enables prenylation of Rab GTPases by delivering Rab proteins to geranylgeranyl transferase, supporting membrane trafficking in retinal and other cells. Loss-of-function variants cause X-linked choroideremia with progressive degeneration of photoreceptors, retinal pigment epithelium, and choroid.
1 disease-causing and 12 uncertain variants in CHM are linked to Choroideremia.
Known disease-causing variants in Choroideremia
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CHM M1V | 1 | Disease-causing |
Diseases related to Choroideremia
- Retinitis pigmentosa, also linked to CHM
Frequently asked questions
Which genes are linked to Choroideremia?
In CATVariant, Choroideremia is linked to 1 analyzed protein: CHM (Rab proteins geranylgeranyltransferase component A 1).
How many genetic variants are linked to Choroideremia?
49 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 12 are of uncertain significance or have conflicting reports.
Which uncertain variants in Choroideremia look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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