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Article

Functional analysis of a novel RUNX2 missense mutation found in a family with cleidocranial dysplasia.

Journal of human genetics - 1 Jan 2005

Puppin Cinzia, Pellizzari Lucia, Fabbro Dora, Fogolari Federico, Tell Gianluca, Tessa Alessanda, Santorelli Filippo M, Damante Giuseppe

Abstract excerpt

Mutations of the RUNX2 gene result in dominantly inherited cleidocranial dysplasia (CCD). RUNX2 encodes for an osteoblast-specific transcription factor, which recognizes specific DNA sequences by the runt domain. DNA binding is stabilized by the interaction with the protein CBFbeta, which induces structural modifications of the runt domain. A novel 574G > A RUNX2 missense mutation has been found in members of a...

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Share to Cleidocranial Dysplasia
Share to Core Binding Factor Alpha 1 Subunit

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Models, Molecular

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Source

Identifiers

PMID: 16244783
DOI: 10.1007/s10038-005-0311-3

Genes

RUNX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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