SPRED1 Antibody – Rabbit Polyclonal

The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008]

SPRED1: Tyrosine kinase substrate that inhibits growth-factor- mediated activation of MAP kinase. Negatively regulates hematopoiesis of bone marrow. Defects in SPRED1 are the cause of neurofibromatosis type 1-like syndrome (NFLS). It is a disorder characterized mainly by cafe au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1, axillary freckling, and macrocephaly. Additional clinical manifestations include Noonan-like facial dysmorphism, lipomas, learning disabilities and attention deficit-hyperactivity.

Protein type: Inhibitor

Chromosomal Location of Human Ortholog: 15q14

Cellular Component: nucleoplasm; cytoplasm; caveola

Molecular Function: protein serine/threonine kinase inhibitor activity; protein binding; stem cell factor receptor binding; protein kinase binding; phosphatase binding

Biological Process: multicellular organismal development; positive regulation of DNA damage response, signal transduction by p53 class mediator; inactivation of MAPK activity

Disease: Legius Syndrome