Disease-gene associations mined from literature

Literature associating SYNJ2 and Charcot-Marie-Tooth disease type 4J

SYNJ2 [ENSP00000347792]

Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2; Inositol 5-phosphatase which may be involved in distinct membrane trafficking and signal transduction pathways. May mediate the inhibitory effect of Rac1 on endocytosis; Belongs to the synaptojanin family.

Synonyms:  SYNJ2,  SYNJ2p,  hSYNJ2,  B4DLC4,  O15056 ...

Linkouts:  STRING  Pharos  UniProt  OMIM