TM2D1 Polyclonal Antibody, 100ul Pipette Micro Tips Mutations in STXBP1 have been

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

has been reported in a patient with B-cell chronic lymphocytic leukemia

A pseudogene of this gene has been defined on chromosome 11

and exon 6 encodes the cytoplasmic tail

TM2D1 Polyclonal Antibody, 100ul Pipette Micro Tips Mutations in STXBP1 have beenThe protein encoded by this gene is a beta amyloid peptide binding protein. It contains a structural module related to that of the seven transmembrane domain G protein coupled receptor superfamily and known to be important in heterotrimeric G protein activation. Beta amyloid peptide has been established to be a causative factor in neuron death and the consequent diminution of cognitive abilities observed in Alzheimer's disease. This protein may be a