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:
Related Diseases:
References:
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Humbert MC et al. (2012) ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.
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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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3. |
Jacoby M et al. (2009) INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse.
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4. |
Kisseleva MV et al. (2000) The isolation and characterization of a cDNA encoding phospholipid-specific inositol polyphosphate 5-phosphatase.
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5. |
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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6. |
Orphanet article
Orphanet ID 208347
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7. |
NCBI article
NCBI 56623
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8. |
OMIM.ORG article
Omim 613037
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9. |
Wikipedia article
Wikipedia EN (INPP5E)
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Update: Aug. 14, 2020