RUNX2

(redirected from Core-binding factor subunit alpha-1)

RUNX2

A gene on chromosome 6p21 that encodes a nuclear protein member of the RUNX family of transcription factors with a Runt DNA-binding domain. RUNX2 is essential for osteoblastic differentiation and skeletal morphogenesis, and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression.

Molecular pathology
RUNX2 mutations cause cleidocranial dysplasia, a bone development disorder.
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References in periodicals archive ?
(4,5) The disease gene has been mapped to chromosome 6p21 within a region containing core-binding factor subunit alpha-1, a member of the runt family of transcription factors Runt-related transcription factor 2.6 This case report presents, an 11-year-old girl with severe short stature with all the features of CCD including a rare finding of complete absence of clavicles.