SPRE1 Polyclonal Antibody

disease:Defects in SPRED1 are the cause of neurofibromatosis type 1-like syndrome (NFLS) [MIM:611431]. Neurofibromatosis type 1 (NF1) is one of the most frequent autosomal dominant diseases. It belongs to the group of disorders known as the 'neuro-cardio-facial-cutaneous' syndromes, present with a variable degree of cognitive impairment, facial dysmorphism, congenital heart defects and skin abnormalities. NFLS is a form of these disorders with autosomal dominant trait consisting of multiple cafe-au-lait spots, axillary freckling, macrocephaly and a Noonan-like dysmorphy in some individuals.,function:Tyrosine kinase substrate that inhibits growth-factor-mediated activation of MAP kinase. Negatively regulates hematopoiesis of bone marrow.,PTM:Phosphorylated on tyrosine.,sequence caution:Contaminating sequence. Potential poly-A sequence.,similarity:Contains 1 KBD domain.,similarity:Contains 1 SPR (sprouty) domain.,similarity:Contains 1 WH1 domain.,subcellular location:Localized in cholesterol-rich membrane raft/caveola fractions.,subunit:Interacts with Ras (By similarity). Homodimer and heterodimer. Interacts with CAV1. Able to interact with SPRED2 to form heterodimers.,tissue specificity:Weakly expressed in embryonic cell line (HEK-293).,