2024年12月24日 · ANKRD11 (Ankyrin Repeat Domain Containing 11) is a Protein Coding gene. Diseases associated with ANKRD11 include Kbg Syndrome and Rare Genetic Intellectual Disability. Chromatin regulator which modulates histone acetylation and gene expression in neural precursor cells (By similarity).

The ANKRD11 gene provides instructions for making a protein called ankyrin repeat domain 11 (ANKRD11). As its name suggests, this protein contains multiple regions called ankyrin domains; proteins with these domains help other proteins interact with each other.

In this work, we report on the clinical characterization of 23 individuals with variants in ANKRD11. The subjects present primarily with developmental delay, intellectual disability and dysmorphic features, and all but two received an initial clinical diagnosis of either KBG syndrome or CdLS.

2024年7月1日 · ANKRD11 (Ankyrin Repeat Domain 11) is a chromatin regulator and a causative gene for KBG syndrome, a rare developmental disorder characterized by multiple organ abnormalities, including...

2018年3月22日 · ANKRD11 encodes the ankryn repeat domain-containing protein 11 (ANKRD11). The protein typically regulates transcription by binding chromatin modifying enzymes, such as histone deacetylases. This is important for …

Ankyrin repeat domain 11 is a protein that in humans is encoded by the ANKRD11 gene. [5] This locus encodes an ankyrin repeat domain-containing protein. The encoded protein inhibits ligand-dependent activation of transcription.

2022年11月29日 · ANKRD11 is a member of a family of ankyrin repeat-containing cofactors that interacts with p160 nuclear receptor coactivators (see NCOA1; 602691) and inhibits ligand-dependent transcriptional activation (Zhang et al., 2004).

2024年8月12日 · ANKRD11 deficiency potentially disrupts longitudinal bone growth by affecting the orderly differentiation of growth plate chondrocytes. Our review offers crucial insights into the association between ANKRD11 variants and short stature and provides valuable guidance for precise clinical diagnosis and treatment of patients with KBG syndrome.

2025年2月9日 · Mutations in ANKRD11 cause KBG syndrome and outline a fundamental role of ANKRD11 in craniofacial, dental, skeletal, and central nervous system development and function. ANKRD11 is a candidate gene for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.

2024年12月10日 · 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.