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Home > A. Molecular pathology > TFAP2A


MIM.107580 6p24

Friday 25 April 2008

AP2-alpha is a 52-kD retinoic acid-inducible and developmentally regulated activator of transcription that binds to a consensus DNA-binding sequence CCCCAGGC in the SV40 and metallothionein (MIM.156350) promoters.


- germline mutations TFAP2A in branchio-oculo-facial syndrome (BOFS) (MIM.113620)

  • Branchio-oculo-facial syndrome (BOFS) is a rare autosomal-dominant cleft palate-craniofacial disorder with variable expressivity. The major features include cutaneous anomalies (cervical, infra- and/or supra-auricular defects, often with dermal thymus), ocular anomalies, characteristic facial appearance (malformed pinnae, oral clefts), and, less commonly, renal and ectodermal (dental and hair) anomalies.

See also


  • TFAP2s


- Milunsky JM, Maher TA, Zhao G, Roberts AE, Stalker HJ, Zori RT, Burch MN, Clemens M, Mulliken JB, Smith R, Lin AE. TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome. Am J Hum Genet. 2008 Apr 16; PMID: 18423521