Literature associating STXBP5 and early infantile epileptic encephalopathy 4
Lethal(2) giant larvae protein homolog 3; Plays a regulatory role in calcium-dependent exocytosis and neurotransmitter release. Inhibits membrane fusion between transport vesicles and the plasma membrane. May modulate the assembly of trans-SNARE complexes between transport vesicles and the plasma membrane. Inhibits translocation of GLUT4 from intracellular vesicles to the plasma membrane. Competes with STXBP1 for STX1 binding (By similarity); Belongs to the WD repeat L(2)GL family.
Synonyms: STXBP5, STXBP5p, hSTXBP5, H7BXC4, NBLA04300 ...