DISEASES

Disease-gene associations mined from literature

Literature associating STX4 and hypomyelinating leukodystrophy

STX4 [ENSP00000317714]

Renal carcinoma antigen NY-REN-31; Plasma membrane t-SNARE that mediates docking of transport vesicles. Necessary for the translocation of SLC2A4 from intracellular vesicles to the plasma membrane. Together with STXB3 and VAMP2, may also play a role in docking/fusion of intracellular GLUT4-containing vesicles with the cell surface in adipocytes (By similarity). May also play a role in docking of synaptic vesicles at presynaptic active zones; Belongs to the syntaxin family.

Synonyms:  STX4,  STX4p,  hSTX4,  B7Z425,  C9JFM5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM