OVOL2 ist ein Gen, das durch das Symbol OVOL2 kodiert wird. Im Allgemeinen auch bezeichnet als: Transcription factor Ovo-like 2; hOvo2; Zinc finger protein 339; ZNF339. OVOL2 hat eine Masse von 30.44kDa, eine Aminosäurelänge von 275, und ist an Corneal dystrophy, posterior polymorphous, 1 beteiligt.
Wir bieten 7 antikörper gegen OVOL2, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ICC/IF and FC mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Zinc-finger transcription repressor factor (PubMed:19700410). Plays a critical role in maintaining the identity of epithelial lineages by suppressing epithelial-to mesenchymal transition (EMT) mainly through the repression of ZEB1, an EMT inducer (By similarity). Positively regulates neuronal differentiation (By similarity). Suppresses cell cycling and terminal differentiation of keratinocytes by directly repressing MYC and NOTCH1 (PubMed:19700410). Important for the correct development of primordial germ cells in embryos (By similarity).
Entrez Zusammenfassung
This gene encodes a member of the evolutionarily conserved ovo-like protein family. Mammalian members of this family contain a single zinc finger domain composed of a tetrad of C2H2 zinc fingers with variable N- and C-terminal extensions that contain intrinsically disordered domains. Members of this family are involved in epithelial development and differentiation. Knockout of this gene in mouse results in early embryonic lethality with phenotypes that include neurectoderm expansion, impaired vascularization, and heart anomalies. In humans, allelic variants of this gene have been associated with posterior polymorphous corneal dystrophy.
Gewebespezifität
Expressed in testis, ovary, heart and skeletal muscle (PubMed:12213202). Expressed in the cornea, but absent from the corneal endothelium (PubMed:26749309).
Rolle bei Krankheiten
Corneal dystrophy, posterior polymorphous, 1: A rare corneal disorder characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, an altered corneal endothelial cell structure, and an unusual proliferation of endothelial cells. Symptoms can range from very aggressive to asymptomatic and non-progressive, even within the same family.
Sequenzähnlichkeiten
Belongs to the krueppel C2H2-type zinc-finger protein family.
