p57 Monoclonal Antibody, 100ul Plasma Mutations in STXBP1 have been

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

The encoded protein localizes to the Golgi apparatus and may play a role in spermatogenesis

and a dysmorphic facial appearance

000×g(Self-standing tube)

This gene encodes alpha-enolase

p57 Monoclonal Antibody, 100ul Plasma Mutations in STXBP1 have beenThis gene is imprinted, with preferential expression of the maternal allele. The encoded protein is a tight binding, strong inhibitor of several G1 cyclin Cdk complexes and a negative regulator of cell proliferation. Mutations in this gene are implicated in sporadic cancers and Beckwith Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. Three transcript variants encoding two different isoforms have been found for this gene.