Title

INPPL1 gene mutations in opsismodysplasia.

Document Type

Article

Publication Date

2-1-2017

Publication Title

Journal of human genetics

Abstract

The INPPL1 (inositol polyphosphate phosphatase-like 1) gene encodes the inositol phosphatase, SHIP2 (for src homology 2 domain-containing inositol phosphatase 2). SHIP2 functions to dephosphorylate, and negatively regulate, the lipid second messenger phosphatidylinositol (3,4,5)P3. SHIP2 has been well studied in the area of insulin resistance and obesity but has roles in cancer and other disorders. Recently, it was reported that mutations in INPPL1 cause opsismodysplasia, a rare, autosomal recessive severe skeletal dysplasia. This review focuses on the mutations associated with opsismodysplasia and explores the role of INPPL1/ SHIP2 in skeletal development.

Medical Subject Headings

Bone Development; Codon, Nonsense; Diphosphonates; Frameshift Mutation; Genetic Predisposition to Disease; Humans; Osteochondrodysplasias; Phosphatidylinositol Phosphates; Phosphatidylinositol-3,4,5-Trisphosphate 5-Phosphatases; Phosphorylation; Signal Transduction

PubMed ID

27708270

Volume

62

Issue

2

First Page

135

Last Page

140

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