ADNP
Function
May be involved in transcriptional regulation. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation. Positively modulates WNT-beta-catenin/CTNN1B signaling, acting by regulating phosphorylation of, and thereby stabilizing, CTNNB1. May be required for neural induction and neuronal differentiation. May be involved in erythroid differentiation (By similarity).
Involvement in disease
Helsmoortel-van der Aa syndrome
HVDAS
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
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.
Cellular localization
- Nucleus
- Chromosome
Alternative names
ADNP1, KIAA0784, ADNP, Activity-dependent neuroprotector homeobox protein, Activity-dependent neuroprotective protein