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| Neurofibromin 1 ： ウィキペディア英語版 |
Neurofibromin 1
Neurofibromin 1 also known as neurofibromatosis-related protein NF-1 is a protein that in humans is encoded by the ''NF1'' gene. Mutations in the NF1 gene are associated with neurofibromatosis type I (also known as von Recklinghausen disease) and Watson syndrome.
== Function ==
NF1 encodes the protein neurofibromin, which appears to be a negative regulator of the ras signal transduction pathway.
NF1 is found within the mammalian postsynapse, where it is known to bind to the NMDA receptor complex. It has been found to lead to learning deficits, and it is suspected that this is a result of its regulation of the Ras pathway. It is known to regulate the GTPase HRAS, causing the hydrolyzation of GTP and thereby inactivating it. Within the synapse HRAS is known to activate Src, which itself phosphorylates GRIN2A, leading to its inclusion in the synaptic membrane.
NF1 is also known to interact with CASK through syndecan, a protein which is involved in the KIF17/ABPA1/CASK/LIN7A complex, which is involved in trafficking GRIN2B to the synapse. This suggests that NF1 has a role in the transportation of the NMDA receptor subunits to the synapse and its membrane. NF1 is also believed to be involved in the synaptic ATP-PKA-cAMP pathway, through modulation of adenylyl cyclase. It is also known to bind the caveolin 1, a protein which regulates p21ras, PKC and growth response factors.〔
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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