Transcription factor AP-2-alpha
The TFAP2A gene encodes a transcription factor. Mutations cause autosomal dominant branchiooculofacial syndrome (BOFS).
Genetests:
Related Diseases:
References:
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Fielding DW et al. (1992) Recurrence of orbital cysts in the branchio-oculo-facial syndrome.
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Montagnac G et al. (2013) αTAT1 catalyses microtubule acetylation at clathrin-coated pits.
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Zarelli VE et al. (2013) Inhibition of neural crest formation by Kctd15 involves regulation of transcription factor AP-2.
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Bassett EA et al. (2010) AP-2alpha knockout mice exhibit optic cup patterning defects and failure of optic stalk morphogenesis.
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Lim JH et al. (2005) AP-2alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development.
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Cheng YH et al. (2003) Identification of an enhancer of the human activating protein-2alpha gene that contains a critical Ets1 binding site.
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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.
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Warren G et al. (1996) Physical and genetic localization of the gene encoding the AP-2 transcription factor to mouse chromosome 13.
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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.
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Zhang J et al. (1996) Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2.
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Schorle H et al. (1996) Transcription factor AP-2 essential for cranial closure and craniofacial development.
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Buettner R et al. (1993) An alternatively spliced mRNA from the AP-2 gene encodes a negative regulator of transcriptional activation by AP-2.
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Bauer R et al. (1994) The genomic structure of the human AP-2 transcription factor.
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Williams T et al. (1988) Cloning and expression of AP-2, a cell-type-specific transcription factor that activates inducible enhancer elements.
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Mitchell PJ et al. (1987) Positive and negative regulation of transcription in vitro: enhancer-binding protein AP-2 is inhibited by SV40 T antigen.
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Gaynor RB et al. (1991) Localization of the gene for the DNA-binding protein AP-2 to human chromosome 6p22.3-pter.
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Reiber J et al. (2010) Additional clinical and molecular analyses of TFAP2A in patients with the branchio-oculo-facial syndrome.
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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.
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Tekin M et al. (2009) A complex TFAP2A allele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child.
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Milunsky JM et al. (2008) TFAP2A mutations result in branchio-oculo-facial syndrome.
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21. |
Lin AE et al. (2000) Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome.
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22. |
Lin AE et al. (1995) Further delineation of the branchio-oculo-facial syndrome.
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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.
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NCBI article
NCBI 7020
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OMIM.ORG article
Omim 107580
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Orphanet article
Orphanet ID 159950
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27. |
Wikipedia article
Wikipedia EN (TFAP2A)
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Update: Aug. 14, 2020