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   INPPL1 gene mutations in opsismodysplasia  
   
نویسنده Fradet Anaïs ,Fitzgerald Jamie
منبع journal of human genetics - 2017 - دوره : 62 - شماره : 2 - صفحه:135 -140
چکیده    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.
آدرس Henry Ford Hospital System, Department of Orthopedic Surgery, USA, Henry Ford Hospital System, Department of Orthopedic Surgery, USA
 
     
   
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