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Article

Identification and characterization of a novel RPGR isoform in human retina.

Human mutation - 1 Aug 2007

Neidhardt John, Glaus Esther, Barthelmes Daniel, Zeitz Christina, Fleischhauer Johannes, Berger Wolfgang

Abstract excerpt

Retinitis pigmentosa (RP) constitutes a major cause of blindness and the Retinitis Pigmentosa GTPase Regulator (RPGR) gene accounts for up to 80% of all X-linked RP cases. A novel isoform of RPGR, expressed in the human retina, was identified and characterized. It truncates the Regulator of Chromosome Condensation 1 (RCC1) homologous protein domain (RCC1h) of RPGR and mediates the formation of isoform-specific...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17405150
DOI: 10.1002/humu.20521

Genes

RPGR
RPGRIP1
RCC1

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.

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