FN3K Polyclonal Antibody, 50ul Cell Labeling & Imaging Mutations in STXBP1 have been

Mutations in STXBP1 have been associated with infantile epileptic encephalopathy-4

where it can bind to the 5' UTR of the insulin-like growth factor II leader 3 mRNA and may repress translation of insulin-like growth factor II during late development

Because there is evidence of transcription and an intact ORF

Pharmacologic studies have determined that cysteinyl leukotrienes activate at least 2 receptors

which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity

FN3K Polyclonal Antibody, 50ul Cell Labeling & Imaging Mutations in STXBP1 have beenA high concentration of glucose can result in non enzymatic oxidation of proteins by reaction of glucose and lysine residues (glycation). Proteins modified in this way, fructosamines, are less active or functional. This gene encodes an enzyme which catalyzes the phosphorylation of fructosamines which may result in deglycation.