2024年12月24日 · ANK3 (Ankyrin 3) is a Protein Coding gene. Diseases associated with ANK3 include Intellectual Developmental Disorder, Autosomal Recessive 37 and Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome. Among its related pathways are Transport to the Golgi and subsequent modification and Nervous system development.

ANK3 encodes multiple isoforms of ankyrin-G, resulting in variegated tissue expression and function, especially regarding its role in neuronal development. Based on the zygosity, location, and type, ANK3 variants result in different neurodevelopmental phenotypes.

2021年1月8日 · The genetic variants in the ANK3 gene impact the risk of psychiatric disorders that include bipolar disorder, autism spectrum disorders, and heart arrhythmia. Wiring the brain: AKN3. ANK3 helps wire the brain in two ways: ANK3 interacts with the way that neurons transmit signals; ANK3 is important in neuron formation during fetal development

2025年2月9日 · Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

2022年7月6日 · Recent evidence has implicated the ANK3 gene, encoding ankyrin-G, in bipolar disorder (BD), schizophrenia (SZ), and autism spectrum disorder (ASD). Within neurons, ankyrin-G plays an important...

Ank3 is much more widely expressed than previously described ankyrins. By Northern hybridization or immunocytochemistry, it is present in most epithelial cells, in neuronal axons, in muscle cells, and in megakaryocytes/platelets, macrophages, and the …

2020年6月15日 · The ANK3 gene encodes ankyrin-G, which is located mainly at the nodes of Ranvier and the axon initial segment (AIS), 2 subcompartments of neurons responsible for the generation of action potentials. It has been shown to associate with the voltage-dependent sodium channel (summary by Iqbal et al., 2013 ).

2025年1月4日 · Ankyrin 3 is an immunologically distinct gene product from ankyrins 1 and 2, and was originally found at the axonal initial segment and nodes of Ranvier of neurons in the central and peripheral nervous systems. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]

Ankyrin-3 (ANK3) is an immune-specific gene product of Ankyrin 1 and Ankyrin 2, and was originally found in axon initiation segments and the Ranvier nodes of neurons in the central nervous system and peripheral nervous system (8). In recent years, researchers have identified many relevant transcript variants to encode various isoforms (9).

2025年2月9日 · ANK3 expression is associated with androgen receptor stability, invasiveness, and lethal outcome in prostate cancer patients. Nonsense mutation in ANK3 was identified in a patient with speech impairment, intellectual disability and autistic features.