Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease.

Traffic (Copenhagen, Denmark) - 1 Aug 2001

Alory C, Balch W E

Abstract excerpt

Choroideremia is an X-chromosome-linked disease that leads to the degeneration of the choriocapillaris, the retinal pigment epithelium and the photoreceptor layer in the eye. The gene product defective in choroideremia, CHM, is identical to Rab escort protein 1 (REP1). CHM/REP1 is an essential component of the catalytic geranylgeranyltransferase II complex (GGTrII) that delivers newly synthesized small GTPases...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alkyl and Aryl Transferases
Share to Catalysis
Share to Choroideremia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Endocytosis

Share to Endoplasmic Reticulum

Share to Golgi Apparatus

Share to GTP Phosphohydrolases

Share to rab GTP-Binding Proteins

Source

Identifiers

PMID: 11489211
DOI: 10.1034/j.1600-0854.2001.20803.x

Genes

CHM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Organization of the Rab-GDI/CHM superfamily: the functional basis for choroideremia disease.PMID 11489211Read ↗

Molecular evolution of the Rab-escort-protein/guanine-nucleotide-dissociation-inhibitor superfamily.Semantic proximity Read ↗

Choroideremia: molecular mechanisms and therapies.Semantic proximity Read ↗

Choroideremia: a review of general findings and pathogenesis.Semantic proximity Read ↗

Genetic Analysis of Choroideremia-Related Rab Escort Proteins.Semantic proximity Read ↗

The functional effect of pathogenic mutations in Rab escort protein 1.Semantic proximity Read ↗

Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.Semantic proximity Read ↗

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.Semantic proximity Read ↗

Choroideremia: from genetic and clinical phenotyping to gene therapy and future treatmentsSemantic proximity Read ↗

Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease.Semantic proximity Read ↗

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.Semantic proximity Read ↗

Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.Semantic proximity Read ↗

Chronically shortened rod outer segments accompany photoreceptor cell death in ChoroideremiaSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.