Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Transkriptionsfaktor TFAP2A

Das TFAP2A-Gen kodiert einen Transkriptionsfaktor. Mutationen führen zum Branchio-okulo-faziales Syndrom.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Branchio-okulo-faziales Syndrom
TFAP2A

Referenzen:

1.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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
7.

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
8.

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

external link
9.

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
10.

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

external link
11.

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

external link
12.

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
13.

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

external link
14.

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

external link
15.

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
16.

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

external link
17.

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

external link
18.

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
19.

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
20.

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

external link
21.

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

external link
22.

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

external link
23.

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
24.

NCBI article

NCBI 7020 external link
25.

OMIM.ORG article

Omim 107580 external link
26.

Orphanet article

Orphanet ID 159950 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz