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Immunogen sequence: HDDDWIDPTD MLNYDAASGT MRKSQAKYGI SGEKDVSPDL SCADEISECY HKLDSLTYKI DECEKKKRED YESQSNPVFR RYLNKILIEA GKLGLL
Highest antigen sequence identity to the following orthologs: Mouse - 79%, Rat - 81%.
Neurofibromin is a member of the GTPase-activating (GAP) class of proteins. These proteins enhance the GTPase activity of signaling G-Proteins like Ras. The NF1 gene is also classified as a tumor suppressor gene, and many studies have shown that mutations at the NF1 locus produce neurofibromas, rhabdomyosarcomas, leimyosarcomas, mental retardation and memory deficiency. Neurofibromin has also been associated with the intermediated filaments of the cytoskeleton. NF1 is expressed at its highest levels during periods of desmosome formation and mutations of NF1 produce variable cell sizes and morphologies.
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: chloride channel CLIC-like 1; Chloride channel CLIC-like protein 1; ER anion channel 1; ERAC1; Mid-1-related chloride channel protein; Mid-1-related chloride channel protein 1
基因别名: CLCC1; KIAA0761; MCLC
UniProt ID: (Human) Q96S66
Entrez Gene ID: (Human) 23155