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

Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.

Human molecular genetics - 15 May 2001

Schwahn U, Paland N, Techritz S, Lenzner S, Berger W

Abstract excerpt

Mutations in RP2 cause the second most frequent form of X-linked retinitis pigmentosa, a severe retinal degeneration that leads to loss of visual acuity and blindness. The RP2 gene encodes a protein with homology to cofactor C, a tubulin-folding chaperone. By searching protein sequence databases, we identified a whole set of similar molecules from diverse organisms. Protein sequence alignments show that RP2 and...

Read the complete abstract on PubMed

Topics

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

Share to Blotting, Northern
Share to Eye Proteins
Share to Fluorescent Antibody Technique

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to GTP-Binding Proteins

Share to Luminescent Proteins

Share to Microscopy, Confocal

Share to Retinitis Pigmentosa

Share to X Chromosome

Source

Identifiers

PMID: 11371510
DOI: 10.1093/hmg/10.11.1177

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.PMID 11371510Read ↗

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.Semantic proximity Read ↗

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.Semantic proximity Read ↗

Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations.Semantic proximity Read ↗

The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage.Semantic proximity Read ↗

Novel frameshift mutations in the RP2 gene and polymorphic variants.Semantic proximity Read ↗

Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2.Semantic proximity Read ↗

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration.Semantic proximity Read ↗

Identification of a novel protein interacting with RPGR.Semantic proximity Read ↗

Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.Semantic proximity Read ↗

Positional cloning of the gene for X-linked retinitis pigmentosa 2.Semantic proximity Read ↗

Comparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones.Semantic proximity Read ↗

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