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Article

Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.

Journal of human genetics - 1 Jan 2006

Bergmann Carsten, Frank Valeska, Küpper Fabian, Schmidt Christa, Senderek Jan, Zerres Klaus

Abstract excerpt

Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 (polycystic kidney and hepatic disease 1) gene on chromosome 6p12. The longest continuous open reading frame comprises 66 exons encoding a novel 4,074 aa multidomain integral membrane protein (polyductin/fibrocystin) of unknown function. Various alternatively spliced transcripts may additionally result in different...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16897190
DOI: 10.1007/s10038-006-0022-4

Genes

PKHD1

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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Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.PMID 16897190Read ↗

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