DISEASES

Disease-gene associations mined from literature

STX1A disease associations

STX1A [ENSP00000222812]

Syntaxin-1A; Plays an essential role in hormone and neurotransmitter calcium-dependent exocytosis and endocytosis . Part of the SNARE (Soluble NSF Attachment Receptor) complex composed of SNAP25, STX1A and VAMP2 which mediates the fusion of synaptic vesicles with the presynaptic plasma membrane. STX1A and SNAP25 are localized on the plasma membrane while VAMP2 resides in synaptic vesicles. The pairing of the three SNAREs from the N-terminal SNARE motifs to the C-terminal anchors leads to the formation of the SNARE complex, which brings membranes into close proximity and results in final fusion. Participates in the calcium-dependent regulation of acrosomal exocytosis in sperm . Plays also an important role in the exocytosis of hormones such as insulin or glucagon-like peptide 1 (GLP-1) (By similarity).

Synonyms:  STX1A,  STX1Ap,  hSTX1A,  A0A0C4DFZ1,  A8MZ54 ...

Linkouts:  STRING  Pharos  UniProt  OMIM