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Article

Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome.

Nature - 31 Mar 2005

Xu Ying, Padiath Quasar S, Shapiro Robert E, Jones Christopher R, Wu Susan C, Saigoh Noriko, Saigoh Kazumasa, Ptácek Louis J, Fu Ying-Hui

Abstract excerpt

Familial advanced sleep phase syndrome (FASPS) is a human behavioural phenotype characterized by early sleep times and early-morning awakening. It was the first human, mendelian circadian rhythm variant to be well-characterized, and was shown to result from a mutation in a phosphorylation site within the casein kinase I (CKI)-binding domain of the human PER2 gene. To gain a deeper understanding of the mechanisms...

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Source

Identifiers

PMID: 15800623
DOI: 10.1038/nature03453

Genes

PER2

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.

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A missense variation in human casein kinase I epsilon gene that induces functional alteration and shows an inverse association with circadian rhythm sleep disorders.Semantic proximity Read ↗

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Variants in the circadian clock genes PER2 and PER3 associate with familial sleep phase disorders.Semantic proximity Read ↗

A circadian sleep disorder reveals a complex clock.Semantic proximity Read ↗

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Familial advanced sleep-phase syndrome: A short-period circadian rhythm variant in humans.Semantic proximity Read ↗

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