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Article

The cellular and physiological functions of the Lowe syndrome protein OCRL1.

Traffic (Copenhagen, Denmark) - 1 May 2014

Mehta Zenobia B, Pietka Grzegorz, Lowe Martin

Abstract excerpt

Phosphoinositide lipids play a key role in cellular physiology, participating in a wide array of cellular processes. Consequently, mutation of phosphoinositide-metabolizing enzymes is responsible for a growing number of diseases in humans. Two related disorders, oculocerebrorenal syndrome of Lowe (OCRL) and Dent-2 disease, are caused by mutation of the inositol 5-phosphatase OCRL1. Here, we review recent advances...

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Source

Open in PubMed Open full text

Identifiers

PMID: 24499450
DOI: 10.1111/tra.12160
PMCID: PMC4278560

Genes

OCRL

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

The cellular and physiological functions of the Lowe syndrome protein OCRL1.PMID 24499450Read ↗

Structure and function of the Lowe syndrome protein OCRL1.Semantic proximity Read ↗

Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRLSemantic proximity Read ↗

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

The oculocerebrorenal syndrome of Lowe: an update.Semantic proximity Read ↗

The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.Semantic proximity Read ↗

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphataseSemantic proximity Read ↗

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

Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of LoweSemantic proximity Read ↗

Loss of OCRL increases ciliary PI(4,5)P2 in Lowe oculocerebrorenal syndromeSemantic proximity Read ↗

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.Semantic proximity Read ↗

A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.Semantic proximity Read ↗

Impaired neural development in a zebrafish model for Lowe syndromeSemantic proximity Read ↗

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