DISEASES

Disease-gene associations mined from literature

Literature associating SYNJ1 and Charcot-Marie-Tooth disease type 4J

SYNJ1 [ENSP00000409667]

Synaptojanin-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,  A0A0D9SGJ6,  C9J1Z6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM