Primary Identifier | IPR042636 | Type | Family |
Short Name | ANKRD11 |
description | Ankyrin repeat domain-containing protein 11 (ANKRD11) is a is a chromatin regulator that controls histone acetylation and gene expression during neural development []. Mutations of the ANKRD11 gene cause KBG syndrome (KBGS), a rare genetic disorder characterised by intellectual disability, autism spectrum disorder, and craniofacial abnormalities []. |