Identity
HGNC
LOCATION
Xq21.2
LOCUSID
ALIAS
DXS540,GGTA,HSD-32,REP-1,TCD
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1121
MIM: 300390
HGNC: 1940
Ensembl: ENSG00000188419
Variants:
dbSNP: 1121
ClinVar: 1121
TCGA: ENSG00000188419
COSMIC: CHM
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000188419 | ENST00000357749 | P24386 |
| ENSG00000188419 | ENST00000615443 | P24386 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37989423 | 2024 | Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia. | 0 |
| 37989423 | 2024 | Loss of REP1 impacts choroidal melanogenesis and vasculogenesis in choroideremia. | 0 |
| 36413603 | 2023 | Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE. | 1 |
| 36413603 | 2023 | Evaluation of CRISPR/Cas9 exon-skipping vector for choroideremia using human induced pluripotent stem cell-derived RPE. | 1 |
| 33538369 | 2021 | CHM mutation spectrum and disease: An update at the time of human therapeutic trials. | 6 |
| 33755601 | 2021 | REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia. | 7 |
| 34282730 | 2021 | Whole-exome sequencing identified a novel mutation in CHM of a Chinese family. | 0 |
| 34440285 | 2021 | Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription. | 3 |
| 33538369 | 2021 | CHM mutation spectrum and disease: An update at the time of human therapeutic trials. | 6 |
| 33755601 | 2021 | REP1 deficiency causes systemic dysfunction of lipid metabolism and oxidative stress in choroideremia. | 7 |
| 34282730 | 2021 | Whole-exome sequencing identified a novel mutation in CHM of a Chinese family. | 0 |
| 34440285 | 2021 | Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription. | 3 |
| 30308560 | 2020 | CHANGES IN RETINAL SENSITIVITY AFTER GENE THERAPY IN CHOROIDEREMIA. | 26 |
| 31922496 | 2020 | CLINICAL CHARACTERISTICS AND MOLECULAR GENETIC ANALYSIS OF A COHORT OF CHINESE PATIENTS WITH CHOROIDEREMIA. | 3 |
| 32097478 | 2020 | Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia. | 3 |
Citation
Dessen P
CHM (CHM Rab escort protein)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/40077/chm
