DISEASES

Disease-gene associations mined from literature

Literature associating STX1A and benign familial neonatal epilepsy

STX1A [ENSP00000222812]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM