ADNP est un gène codé par le symbole ADNP. D'autres noms incluent: Activity-dependent neuroprotector homeobox protein; Activity-dependent neuroprotective protein1; KIAA0784. ADNP a une masse de 123.56kDa, une longueur d'acide aminé de 1102, et est impliqué dans Helsmoortel-van der Aa syndrome.
Nous proposons 6 des anticorps contre ADNP, élevé dans Lapin, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Potential transcription factor. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation.
Résumé Entrez
Vasoactive intestinal peptide is a neuroprotective factor that has a stimulatory effect on the growth of some tumor cells and an inhibitory effect on others. This gene encodes a protein that is upregulated by vasoactive intestinal peptide and may be involved in its stimulatory effect on certain tumor cells. The encoded protein contains one homeobox and nine zinc finger domains, suggesting that it functions as a transcription factor. This gene is also upregulated in normal proliferative tissues. Finally, the encoded protein may increase the viability of certain cell types through modulation of p53 activity. Alternatively spliced transcript variants encoding the same protein have been described.
Spécificité tissulaire
Widely expressed. Strong expression in heart, skeletal muscle, kidney and placenta. In brain, expression is stronger in the cerebellum and cortex regions. No expression detected in the colon. Strong increase of expression in colon and breast cancer tissues.
Implication dans la maladie
Helsmoortel-van der Aa syndrome: A disorder characterized by intellectual disability, autism spectrum disorder, and dysmorphic facial features including prominent forehead, high hairline, downslanting palpebral fissures, notched eyelids, broad nasal bridge, thin upper lip, and smooth philtrum.
Localisation cellulaire
Nucleus.
