Neurofibromin / NF1 (NF1) Antibody – Rabbit Polyclonal

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]

NF1: a Ras-GAP, highly expressed in developing neural cells. Possesses tumor suppressor activity, presumably by virtue of its GTPase activating domain. Neurofibromin is phosphorylated in response to EGF in CNS cells and cell lines. Defects in NF1 are the cause of type 1 neurofibromatosis (NF1), Watson syndrome, and familial spinal neurofibromatosis. NF1 is one of the most frequent autosomal dominant diseases. Four alternatively spliced isoforms have been described.

Protein type: Nucleolus; GAPs; Motility/polarity/chemotaxis; GAPs, Ras; Tumor suppressor

Chromosomal Location of Human Ortholog: 17q11.2

Cellular Component: axon; cytoplasm; cytosol; dendrite; membrane; nucleolus; nucleus

Molecular Function: GTPase activator activity; phosphatidylcholine binding; phosphatidylethanolamine binding; protein binding

Biological Process: actin cytoskeleton organization and biogenesis; activation of MAPKK activity; adrenal gland development; amygdala development; artery morphogenesis; axon guidance; brain development; camera-type eye morphogenesis; cell communication; cerebral cortex development; cognition; collagen fibril organization; epidermal growth factor receptor signaling pathway; extracellular matrix organization and biogenesis; fibroblast growth factor receptor signaling pathway; forebrain astrocyte development; forebrain morphogenesis; heart development; induction of apoptosis via death domain receptors; innate immune response; insulin receptor signaling pathway; liver development; MAPKKK cascade; metanephros development; myelination in the peripheral nervous system; negative regulation of angiogenesis; negative regulation of astrocyte differentiation; negative regulation of cell migration; negative regulation of cell-matrix adhesion; negative regulation of endothelial cell proliferation; negative regulation of fibroblast proliferation; negative regulation of MAP kinase activity; negative regulation of MAPKKK cascade; negative regulation of neuroblast proliferation; negative regulation of neurotransmitter secretion; negative regulation of oligodendrocyte differentiation; negative regulation of osteoclast differentiation; negative regulation of protein kinase activity; negative regulation of Rac protein signal transduction; negative regulation of Ras protein signal transduction; negative regulation of transcription factor import into nucleus; nerve growth factor receptor signaling pathway; neural tube development; osteoblast differentiation; peripheral nervous system development; phosphoinositide 3-kinase cascade; pigmentation; positive regulation of adenylate cyclase activity; positive regulation of apoptosis; positive regulation of endothelial cell proliferation; positive regulation of GTPase activity; positive regulation of neuron apoptosis; Ras protein signal transduction; regulation of angiogenesis; regulation of blood vessel endothelial cell migration; regulation of bone resorption; regulation of cell-matrix adhesion; regulation of gene expression; regulation of glial cell differentiation; regulation of GTPase activity; regulation of long-term neuronal synaptic plasticity; regulation of synaptic transmission, GABAergic; response to hypoxia; Schwann cell development; skeletal muscle development; small GTPase mediated signal transduction; smooth muscle development; spinal cord development; sympathetic nervous system development; vascular endothelial growth factor receptor signaling pathway; visual learning; wound healing

Disease: Juvenile Myelomonocytic Leukemia; Neurofibromatosis, Familial Spinal; Neurofibromatosis, Type I; Neurofibromatosis-noonan Syndrome; Watson Syndrome