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

Chromosomal Location of Human Ortholog: 17q11.2

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

Molecular Function: protein binding; phosphatidylethanolamine binding; phosphatidylcholine binding

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

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