ANKRD11

This locus encodes an ankryin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription. Mutations in this gene have been associated with KBG syndrome, which is characterized by macrodontia, distinctive craniofacial features, short stature, skeletal anomalies, global developmental delay, seizures and intellectual disability. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 2 and X.

Full Name

Ankyrin Repeat Domain 11

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).

Biological Process

Anatomical structure morphogenesis Source: GO_Central
Face morphogenesis Source: MGI
Odontogenesis of dentin-containing tooth Source: MGI
Skeletal system morphogenesis Source: MGI

Cellular Location

Nucleus. Localizes to chromatin during prometaphase.

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.

PTM

Subject to proteasomal degradation which is probably essential to regulate its activity.