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Article

Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis.

Human molecular genetics - 15 Jun 2013

Barbelanne Marine, Song Jenny, Ahmadzai Mustafa, Tsang William Y

Abstract excerpt

Mutations in the human NPHP5 gene cause retinal and renal disease, but the precise mechanism by which NPHP5 functions is not understood. We report that NPHP5 is a centriolar protein whose depletion inhibits an early step of ciliogenesis, a phenotype reminiscent of Cep290 loss and contrary to IFT88 loss. Functional dissection of NPHP5 interactions with Cep290 and CaM reveals a requirement of the former for...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23446637
DOI: 10.1093/hmg/ddt100
PMCID: PMC3797088

Genes

IFT88

Provenance

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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