Gene
CHM
CHM Rab escort protein
- HGNC 1940(opens in a new tab)
- Ensembl gene ENSG00000188419(opens in a new tab)
- NCBI Gene 1121(opens in a new tab)
Summary
- Cytogenetic location
- Xq21.2
- Coordinates
- Chromosome X: 85,861,180–86,047,558 (GRCh38)
- Exons
- 15 exons across 186.4 kb
- Protein
- 653 amino acids
- Inheritance
- X-linked recessive
- Also known as
- REP-1
- Previous symbols
- TCD, DXS540
- MANE Select transcript
- ENST00000357749.7NM_000390.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Choroideremia
- X-linked recessive
An X-linked chorioretinal degeneration caused by changes in the CHM gene; female carriers usually have mild fundus changes and few symptoms.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Regular eye care supports low-vision planning, a genetic diagnosis is needed for gene-therapy trials, and female relatives can be offered carrier testing.
Inheritance
- X-linked recessive
- The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.
How CHM is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 5.4 kb of the gene's 186.4 kb; 1,962 of those bases code for the protein.
How a genome test reads CHM
104
positions in CHM where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 186.4 kb of CHM, introns included, not only the 5.4 kb of exons.
Traits linked to CHM
The Human Phenotype Ontology lists these as features of the rare conditions CHM can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Chorioretinal atrophy
- Difficulties with night vision
- Fundus hypopigmentation
- Limited peripheral vision
- Pigmentary retinopathy
- Progressive loss of vision
- Visual impairment
- Abnormal electroretinogram
Show 13 more traits
- Abnormal retinal pigmentation
- Close sighted
- Chorioretinal scalloped atrophy
- Loss of peripheral vision
- Spicular pigmentation of the retina
- Abnormal color vision
- Abnormal fundus autofluorescence imaging
- Choroidal neovascularization
- Granular macular appearance
- Macular edema
- Nummular pigmentation of the retina
- Posterior subcapsular cataract
- Retinal pigment epithelial mottling
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CHM gene: CHM Rab escort protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/chm
Dante Labs. CHM gene: CHM Rab escort protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/chm
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