ANKRD11
Developmental stage
Expression levels are regulated during the cell cycle, reaching maximal levels at M phase and then rapidly declining after late M phase.
Function
Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity). May recruit histone deacetylases (HDACs) to the p160 coactivators/nuclear receptor complex to inhibit ligand-dependent transactivation (PubMed:15184363). Has a role in proliferation and development of cortical neural precursors (PubMed:25556659). May also regulate bone homeostasis (By similarity).
Involvement in disease
KBG syndrome
KBGS
A syndrome characterized by macrodontia of the upper central incisors, distinctive craniofacial findings, short stature, skeletal anomalies, and neurologic involvement that includes global developmental delay, seizures, and intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Subject to proteasomal degradation which is probably essential to regulate its activity.
Cellular localization
- Nucleus
- Localizes to chromatin during prometaphase.
Alternative names
ANCO1, ANKRD11, Ankyrin repeat domain-containing protein 11, Ankyrin repeat-containing cofactor 1