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Official Full Name: KIDINS220
Also known as: ARMS; SINO; VENARG
This gene encodes a transmembrane protein that is preferentially expressed in the nervous system and controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytoplasmic signaling components, and cytoskeletal proteins, serving as a scaffold to mediate crosstalk between the neurotrophin pathway and other intracellular signaling pathways. Aberrant expression of this gene is associated with the pathogenesis of various neuropsychiatric and neurodegenerative diseases, including Alzheimer's disease. Natural mutations in this gene have been associated with syndromes such as spastic paraplegia, intellectual disability, nystagmus, and obesity. Alternative splicing results in multiple transcript variants.