CHM (CHM Rab escort protein)

2003-05-01  

Identity

HGNC
LOCATION
Xq21.2
LOCUSID
ALIAS
DXS540,GGTA,HSD-32,REP-1,TCD
FUSION GENES

Other Information

Locus ID:

NCBI: 1121
MIM: 300390
HGNC: 1940
Ensembl: ENSG00000188419

Variants:

dbSNP: 1121
ClinVar: 1121
TCGA: ENSG00000188419
COSMIC: CHM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188419ENST00000357749P24386
ENSG00000188419ENST00000615443P24386

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
TP53 Regulates Transcription of Cell Death GenesREACTOMER-HSA-5633008
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertainREACTOMER-HSA-6803205
RAB GEFs exchange GTP for GDP on RABsREACTOMER-HSA-8876198
RAB geranylgeranylationREACTOMER-HSA-8873719

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
151867762004Structure of the Rab7:REP-1 complex: insights into the mechanism of Rab prenylation and choroideremia disease.57
169361312006Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.54
194229662009Choroideremia: new findings from ocular pathology and review of recent literature.32
128274962003Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.29
239405042013Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.27
299401662018Two-Year Results After AAV2-Mediated Gene Therapy for Choroideremia: The Alberta Experience.24
273297642016Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.23
278206362016The Spectrum of CHM Gene Mutations in Choroideremia and Their Relationship to Clinical Phenotype.23
302978952018Beneficial effects on vision in patients undergoing retinal gene therapy for choroideremia.22
176987592007Clinical and functional findings in choroideremia due to complete deletion of the CHM gene.20

Citation

Dessen P

CHM (CHM Rab escort protein)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/40077/chm