INPPL1 gene mutations in opsismodysplasia

被引：12
|
作者：
Fradet, Anais [1 ]
Fitzgerald, Jamie [1 ]
机构：
[1] Henry Ford Hosp Syst, Ctr Bone & Joint, Dept Orthoped Surg, Detroit, MI USA
来源：
JOURNAL OF HUMAN GENETICS | 2017年 / 62卷 / 02期
关键词：
LIPID PHOSPHATASE SHIP2; 2-CONTAINING INOSITOL 5'-PHOSPHATASE-2; AUTOSOMAL RECESSIVE INHERITANCE; SCHNECKENBECKEN DYSPLASIA; CELL POLARITY; SH2; DOMAIN; PROTEIN; POLYMORPHISMS; CANCER; EXPRESSION;
D O I：
10.1038/jhg.2016.119
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：135 / 140
页数：6
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