Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

72 kDa inositol polyphosphate 5-phosphatase

The INPP5E gene encodes a protein that by regulating calcium levels is involved in signal transduction, in particular in association with Golgi trafficking. Mutations cause autosomal recessive Joubert and MORM syndromes.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 01
Mental retardation, truncal obesity, retinal dystrophy and micropenis



Humbert MC et. al. (2012) ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.


Kisseleva MV et. al. (2000) The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase.


Kong AM et. al. (2000) Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network.


Jacoby M et. al. (2009) INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.


Bielas SL et. al. (2009) Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

Update: Oct. 11, 2018