| Modification Notes |
SPRED1 (sprouty-related, EVH1 domain containing 1), also known as NFLS, is a 444 amino acid protein that contains one KBD domain, one sprouty domain and one WH1 domain. Localized to the cell membrane and to cholesterol-rich membrane raft fractions, SPRED1 functions as a tyrosine kinase that regulates the activity of the ERK (also known as MAP kinase) cascade by inhibiting the growth-factor-mediated activation of ERK. SPRED1 can act independently as a homodimer or can function as a heterodimer with SPRED2 and, in addition to its ability to regulate ERK, is thought to negatively regulate the development of blood cells in bone marrow. Defects in the gene encoding SPRED1 are the cause of neurofibromatosis type 1-like syndrome (NFLS), an autosomal dominant disease that is characterized by multiple cafe-au-lait spots, axillary freckling and macrocephaly. |