Neurofibromin Recombinant Rabbit Monoclonal Antibody [PSH25-01] (HA724496)

UNIPROT #

P21359

PROTEIN NAME

Neurofibromin

SYNONYMS

DKFZp686J1293 antibody;FLJ21220 antibody;Neurofibromatosis Noonan syndrome antibody;Neurofibromatosis related protein NF 1 antibody;Neurofibromatosis related protein NF1 antibody;neurofibromatosis type I antibody;Neurofibromatosis-related protein NF-1 antibody;Neurofibromin 1 antibody;Neurofibromin truncated antibody;Neurofibromin1 antibody;NF 1 antibody;NF antibody;NF1 antibody;NF1_HUMAN antibody;NFNS antibody;Type 1 Neurofibromatosis antibody;von Recklinghausen disease neurofibromin antibody;von Recklinghausen disease related protein VRNF antibody;VRNF antibody;WATS antibody;Watson disease related protein WSS antibody;Watson syndrome antibody;WSS antibody

SUBCELLULAR LOCATION

Nucleus, nucleolus, Cell membrane.

FUNCTION

Neurofibromin (NF-1) is a protein that is encoded in humans, in the NF1 gene. NF1 is located on chromosome 17. Neurofibromin, a GTPase-activating protein that negatively regulates RAS/MAPK pathway activity by accelerating the hydrolysis of Ras-bound GTP. NF1 has a high mutation rate and mutations can alter cellular growth control, and neural development, resulting in various presentations (depending on the specific allele expressed) such as Watson syndrome[10] and neurofibromatosis type 1 (NF1, also known as von Recklinghausen syndrome). Symptoms of NF1 include disfiguring cutaneous neurofibromas (CNF), café au lait pigment spots, plexiform neurofibromas (PN), skeletal defects, optic nerve gliomas, life-threatening malignant peripheral nerve sheath tumors (MPNST), pheochromocytoma, attention deficits, learning deficits and other cognitive disabilities.