Protein Name | neurofibromin 1 |
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Organism | Mus musculus |
Gene ID | 18015 |
Gene Symbol | Nf1 |
UniProt | Q04690 (NF1_MOUSE) |
Relationships |
Total Number of functionally related compound(s) :
138
Total Number of Articles : 164 |
Description |
neurofibromin 1 |
Gene Summary |
Enables GTPase activator activity. Involved in negative regulation of fibroblast proliferation and regulation of postsynapse organization. Acts upstream of or within several processes, including modulation of chemical synaptic transmission; negative regulation of cell development; and nervous system development. Located in cytoplasm. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and integumental system. Used to study juvenile myelomonocytic leukemia; malignant peripheral nerve sheath tumor; and neurofibromatosis 1. Human ortholog(s) of this gene implicated in several diseases, including Watson syndrome; autistic disorder; hematologic cancer (multiple); neurofibromatosis 1 (multiple); and peripheral nervous system neoplasm (multiple). Orthologous to human NF1 (neurofibromin 1). [provided by Alliance of Genome Resources, Jun 2025] |
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