Disease-gene associations mined from literature

Literature associating SYNJ1 and West syndrome

SYNJ1 [ENSP00000409667]

Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1; Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate. Has a role in clathrin-mediated endocytosis (By similarity). Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 (By similarity); Belongs to the synaptojanin family.

Synonyms:  SYNJ1,  SYNJ1p,  hSYNJ1,  B4DIP0,  C9J1Z6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM