Protein Name neurofibromin 1
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]

synonyms
  • neurofibromin
  • neurofibromatosis 1
  • neurofibromatosis-related protein NF-1
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Properties