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.

Genetests:

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

Related Diseases:

Joubert syndrome 01
INPP5E
Mental retardation, truncal obesity, retinal dystrophy and micropenis
INPP5E

References:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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Update: Oct. 11, 2018