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Article

Structure and function of the Lowe syndrome protein OCRL1.

Traffic (Copenhagen, Denmark) - 1 Sept 2005

Lowe Martin

Abstract excerpt

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder with the hallmark features of congenital cataracts, mental retardation and Fanconi syndrome of the kidney proximal tubules. OCRL was first described in 1952, and exactly four decades later, the gene responsible was identified and found to encode a protein highly homologous to inositol polyphosphate 5-phosphatase. This suggested that Lowe syndrome...

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Source

Identifiers

PMID: 16101675
DOI: 10.1111/j.1600-0854.2005.00311.x

Genes

OCRL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Structure and function of the Lowe syndrome protein OCRL1.PMID 16101675Read ↗

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

Prenatal diagnosis of lowe syndrome: identification of a novel pathogenic variation in the OCRL1gene.Semantic proximity Read ↗

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.Semantic proximity Read ↗

Novel pathogenic OCRL mutations and genotype-phenotype analysis of Chinese children affected by oculocerebrorenal syndrome: two cases and a literature review.Semantic proximity Read ↗

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

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OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.Semantic proximity Read ↗

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.Semantic proximity Read ↗

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