ADNP

Function

Potential transcription factor. May mediate some of the neuroprotective peptide VIP-associated effects involving normal growth and cancer proliferation.

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

Alternative names

• Activity-dependent neuroprotector homeobox protein
• Activity-dependent neuroprotective protein
• ADNP
• ADNP1
• KIAA0784

Database links

• entrezGene:23394
• omim:611386
• swissprot:Q9H2P0

Target type

Proteins

Primary research area

Neuroscience

Molecular weight

123563Da