INPPL1 gene mutations in opsismodysplasia.
INPPL1 gene mutations in opsismodysplasia.
复制标题
opsismodyplasia中的Inppl1基因突变。
DOI：
10.1038/jhg.2016.119
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发表时间：
2017-02
影响因子：
3.5
通讯作者：
Fitzgerald J
中科院分区：
文献类型：
--
作者：
Fradet A;Fitzgerald J
INPPL1（肌醇多磷酸磷酸酶样1）基因编码肌醇磷酸酶SHIP2（用于src同源2结构域含肌醇磷酸酶2）。SHIP2的功能是使脂质第二信使磷脂酰肌醇（3,4,5）P3去磷酸化并负向调节。SHIP2在胰岛素抵抗和肥胖领域得到了很好的研究，但在癌症和其他疾病中也有作用。最近，有报道称INPPL1基因突变导致opsismodysplasia，这是一种罕见的常染色体隐性严重骨骼发育不良。本文综述了与骨发育不良相关的突变，并探讨了INPPL1/ SHIP2在骨骼发育中的作用。
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.