Transcription factor AP-2 gamma also known as AP2-gamma is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''TFAP2C''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
AP2-gamma is a member of the
activating protein 2
Activating Protein 2 (AP-2) is a family of closely related transcription factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of gen ...
family of
transcription factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The f ...
s.
Transcription factor AP-2 gamma is involved in early development, specifically morphogenesis - the formation of shape. AP2-gamma can regulate gene transcription by interacting with viral and cellular enhancing components and binding to the sequence 5'-GCCNNNGGC-3’. AP2-gamma activates genes that are important for placenta development and retinoic acid-mediated differentiation of the eyes, face, body wall, limbs, and neural tube. AP2-gamma also suppresses genes such as MYC and C/EBP alpha. It also represses CD44 expression, which is a cell marker for some breast and prostate cancers. Mutations of this transcription factor can lead to poorly developed placenta and tissues. A mutated AP2-gamma gene is known to cause branchiooculofacial syndrome (BOFS), which is a disease characterized by face and neck abnormalities, such as cleft lip or anophthalmia – lack of eyeballs, that have developed prior to birth. Complete knockout of the TAP2C gene that encoded AP-2 gamma leads to placenta malformation and embryonic/fetal death.
References
Auman, H. J., T. Nottoli, O. Lakiza, Q. Winger, S. Donaldson, and T. Williams. "Transcription Factor AP-2gamma Is Essential in the Extra-embryonic Lineages for Early Postimplantation Development." National Center for Biotechnology Information. U.S. National Library of Medicine, June 2002. Web. 15 Apr. 2014.
Bogachek, M. V., and R. J. Weigel. "TFAP2C (transcription Factor AP-2 Gamma (activating Enhancer Binding Protein 2 Gamma))." TFAP2C (transcription Factor AP-2 Gamma(activating Enhancer Binding Protein 2 Gamma)). Oct. 2013. Web. 15 Apr. 2014.
"Branchio-oculo-facial Syndrome." Genetics Home Reference. U.S. National Library of Medicine, 7 Apr. 2014. Web. 15 Apr. 2014.
"Genes and Mapped Phenotypes." National Center for Biotechnology Information. U.S. National Library of Medicine, 12 Apr. 2014. Web. 15 Apr. 2014.
"Transcription Factor AP-2 Gamma - TFAP2C - ''Homo sapiens'' (Human)." Transcription Factor AP-2 Gamma - TFAP2C - ''Homo sapiens'' (Human). UniProtKB, 19 Mar. 2014. Web. 15 Apr. 2014.
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Transcription factors
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