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Article

Differential clathrin binding and subcellular localization of OCRL1 splice isoforms.

The Journal of biological chemistry - 10 Apr 2009

Choudhury Rawshan, Noakes Christopher J, McKenzie Edward, Kox Corinne, Lowe Martin

Abstract excerpt

Mutation of the inositol polyphosphate 5-phosphatase OCRL1 causes the X-linked disorder oculocerebrorenal syndrome of Lowe, characterized by defects in the brain, kidneys, and eyes. OCRL1 exists as two splice isoforms that differ by a single exon encoding 8 amino acids. The longer protein, termed...

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Identifiers

PMID: 19211563
DOI: 10.1074/jbc.M807442200
PMCID: PMC2665120

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19211563-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Differential clathrin binding and subcellular localization of OCRL1 splice isoforms.PMID 19211563Read ↗

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The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.Semantic proximity Read ↗

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A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.Semantic proximity Read ↗

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