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Positive controls: SH-SY5Y cell lysates, N2A, PC-12, human pancreas tissue, human breast cancer tissue, mouse brain tissue, SH-SY5Y.
This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytosolic signaling components, and cytoskeletal proteins, serving as a scaffold that mediates crosstalk between the neurotrophin pathway and several other intracellular signaling pathways. Aberrant expression of this gene is associated with the onset of various neuropsychiatric disorders and neurodegenerative diseases, including Alzheimer's disease. Naturally occurring mutations in this gene are associated with a syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity. Alternative splicing results in multiple transcript variants.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: ankyrin repeat-rich membrane spanning; ankyrin repeat-rich membrane spanning protein; Ankyrin repeat-rich membrane-spanning protein; kinase D-interacting substance 220; kinase D-interacting substance of 220 kDa; Kinase D-interacting substrate of 220 kDa; kinase D-interacting substrate, 220kDa; MGC163482; truncated KIDINS220
基因别名: 3110039L19Rik; AI194387; AI316525; ARMS; C330002I19Rik; KIAA1250; KIDINS220; mKIAA1250
UniProt ID: (Human) Q9ULH0, (Rat) Q9EQG6
Entrez Gene ID: (Human) 57498, (Rat) 116478, (Mouse) 77480