Target intelligence / Profile preview

Ankyrin repeat domain-containing protein 11 (ANKRD11)

Target
ANKRD11
Molecular classification
Other (chromatin regulator, cofactor, transcriptional regulator, epigenetic regulator, nuclear protein)
01

Overview

Ankyrin repeat domain-containing protein 11 (ANKRD11) is a multifunctional chromatin regulator and nuclear cofactor that modulates gene expression through interactions with nuclear receptor complexes, transcription factors (including p53), and chromatin-modifying enzymes[1][2][3]. It contains ankyrin repeats, repression domains, and an activation domain, enabling both coactivator and corepressor functions for nuclear receptors. ANKRD11 is critical in the epigenetic regulation of gene expression, especially through modification of histone acetylation, and is essential for normal neurodevelopment, bone maturation, and craniofacial formation[1][2][3][5]. Mutations in ANKRD11 cause KBG syndrome, a neurodevelopmental disorder characterized by developmental delay, intellectual disability, craniofacial and skeletal anomalies, and can also contribute to other disorders including Cornelia de Lange syndrome and some forms of cancer. ANKRD11 is not currently considered a classic druggable therapeutic target such as a receptor, enzyme, or transporter, and there are no known approved drugs that directly target or modulate the activity of this protein[1][2][3][5].

Other names
Ankyrin repeat domain-containing protein 11ANKRD11ANCO1LZ16T13ANCO-1Ankyrin repeat-containing cofactor 1ankyrin repeats containing cofactor 1nasopharyngeal carcinoma susceptibility protein
02

Biological functions

Chromatin modification via histone acetylationCoactivator and corepressor function for nuclear receptorsModulation of gene expressionRegulation of neurogenesis (neural positioning, dendritic differentiation)Regulation of bone and craniofacial developmentp53 acetylation and function
03

Disease associations

Neurodevelopmental disorders (especially KBG syndrome, Cornelia de Lange syndrome)Cancer (tumor suppressor role)Craniofacial/bone disordersIntellectual disability, developmental delay
04

Safety considerations

Haploinsufficiency causes KBG syndrome, with craniofacial and skeletal anomalies, intellectual disability, and developmental delay[1][2][3][5].Deficiency or mutation causes impairment in bone and neural development, delayed bone maturation, neurogenesis defects, and possibly tumorigenesis[1][2][3][5].

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