Primary Identifier | IPR038861 | Type | Family |
Short Name | ADNP/ADNP2 |
description | This entry includes a group of homeobox proteins, including ADNP and ADNP2 []. ADNP regulates the expression of >400 genes during embryonic development, vital for mammalian brain formation [, ]. It has been linked to neurodegenerative diseases and has been shown to play an important roles in autophagy. ADNP has also been associated with the pathophysiology of schizophrenia []. ADNP de novo mutations in humans result in a syndromic form of autism-like spectrum disorder (ASD), including cognitive and motor deficits, the ADNP syndrome (Helsmoortel-Van Der Aa) []. |