Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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 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
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.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

Orphanet article

Orphanet ID 208347 external link
7.

NCBI article

NCBI 56623 external link
8.

OMIM.ORG article

Omim 613037 external link
9.

Wikipedia article

Wikipedia EN (INPP5E) external link
Update: Aug. 14, 2020
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