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RUNX2

RUNX2 is an osteoblast-specific transcription factor.

Pathology

- heterozygous mutations in

  • cleidocranial dysplasia (MIM.119600) (#12196916#)
    • polyalanine repeat expansion
  • forme fruste cleidocranial dysplasia with brachydactyly (MIM.119600)

See also

- polyalanine repeat expansions

References

- Anglin I, Passaniti A. Runx protein signaling in human cancers. Cancer Treat Res. 2004;119:189-215. PMID: #15164879#