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Article

RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.

The Journal of biological chemistry - 30 Sept 2005

Khanna Hemant, Hurd Toby W, Lillo Concepcion, Shu Xinhua, Parapuram Sunil K, He Shirley, Akimoto Masayuki, Wright Alan F, Margolis Ben, Williams David S, Swaroop Anand

Abstract excerpt

Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene account for almost 20% of patients with retinitis pigmentosa. Most mutations are detected in alternatively spliced RPGR-ORF15 isoform(s), which are primarily but not exclusively expressed in the retina. We show that, in addition to the axoneme, the RPGR-ORF15 protein is localized to the basal bodies of photoreceptor connecting cilium and to the...

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Source

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Identifiers

PMID: 16043481
DOI: 10.1074/jbc.M505827200
PMCID: PMC1249479

Genes

RPGR
SMC3
IFT88
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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RPGR-ORF15, which is mutated in retinitis pigmentosa, associates with SMC1, SMC3, and microtubule transport proteins.PMID 16043481Read ↗

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