Feb 01, 2018
activity dependent neuroprotector homeobox
The gene ADNP codes for a protein responsible for regulating genes involved in brain development (Gozes, 2007; Mandel et al., 2007).
GeneCards: GC20M050888
Genetics Home Reference: ADNP
NCBI Gene: 23394
OMIM: 611386
UniProtKB/Swiss-Prot: Q9H2P0
A change in the ADNP gene was identified in a UDN participant. The participant, a 4-year-old male with Helsmoortel-van der Aa syndrome was found to carry the following genetic change in the ADNP gene: c.539_542delTTAG / p.V180fs.
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