Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Transcription factor AP-2-alpha

The TFAP2A gene encodes a transcription factor. Mutations cause autosomal dominant branchiooculofacial syndrome (BOFS).


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Branchio-oculo-facial syndrome



Fielding DW et al. (1992) Recurrence of orbital cysts in the branchio-oculo-facial syndrome.

external link

Montagnac G et al. (2013) αTAT1 catalyses microtubule acetylation at clathrin-coated pits.

external link

Zarelli VE et al. (2013) Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2.

external link

Bassett EA et al. (2010) AP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis.

external link

Lim JH et al. (2005) AP-2alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development.

external link

Cheng YH et al. (2003) Identification of an enhancer of the human activating protein-2alpha gene that contains a critical Ets1 binding site.

external link

Zhu CH et al. (2001) Expression of AP-2 alpha in SV40 immortalized human lung fibroblasts is associated with a distinct pattern of cytosine methylation in the AP-2 alpha promoter.

external link

Warren G et al. (1996) Physical and genetic localization of the gene encoding the AP-2 transcription factor to mouse chromosome 13.

external link

Williamson JA et al. (1996) Chromosomal mapping of the human and mouse homologues of two new members of the AP-2 family of transcription factors.

external link

Zhang J et al. (1996) Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2.

external link

Schorle H et al. (1996) Transcription factor AP-2 essential for cranial closure and craniofacial development.

external link

Buettner R et al. (1993) An alternatively spliced mRNA from the AP-2 gene encodes a negative regulator of transcriptional activation by AP-2.

external link

Bauer R et al. (1994) The genomic structure of the human AP-2 transcription factor.

external link

Williams T et al. (1988) Cloning and expression of AP-2, a cell-type-specific transcription factor that activates inducible enhancer elements.

external link

Mitchell PJ et al. (1987) Positive and negative regulation of transcription in vitro: enhancer-binding protein AP-2 is inhibited by SV40 T antigen.

external link

Gaynor RB et al. (1991) Localization of the gene for the DNA-binding protein AP-2 to human chromosome 6p22.3-pter.

external link

Reiber J et al. (2010) Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.

external link

Gestri G et al. (2009) Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.

external link

Tekin M et al. (2009) A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.

external link

Milunsky JM et al. (2008) TFAP2A mutations result in branchio-oculo-facial syndrome.

external link

Lin AE et al. (2000) Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.

external link

Lin AE et al. (1995) Further delineation of the branchio-oculo-facial syndrome.

external link

Davies AF et al. (1999) An interstitial deletion of 6p24-p25 proximal to the FKHL7 locus and including AP-2alpha that affects anterior eye chamber development.

external link

NCBI article

NCBI 7020 external link

OMIM.ORG article

Omim 107580 external link

Orphanet article

Orphanet ID 159950 external link

Wikipedia article

Wikipedia EN (TFAP2A) external link
Update: Aug. 14, 2020
Copyright © 2005-2021 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits