| Primary Identifier | IPR042478 | Type | Family |
| Short Name | INPP5E |
| description | INPP5E is an inositol-polyphosphate 5-phosphatase that localizes to the Golgi network []. It localises to the primary cilium and may regulate PtdIns(3,4,5)P3-dependent Akt signalling []. Mutations in the INPP5E gene cause Joubert syndrome 1 [], mental retardation, truncal obesity, retinal dystrophy and micropenis (MORMS) []. |
