Literature associating STX1A and hypomyelinating leukodystrophy
Neuron-specific antigen HPC-1; Plays a role in hormone and neurotransmitter exocytosis (By similarity). Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)- regulation of exocytosis acrosomal reaction in sperm; Syntaxins
Synonyms: STX1A, STX1Ap, hSTX1A, A8MZ54, Q16623 ...