GALNT3 functions in phosphate homeostasis and bone biology

GALNT3基因功能突变的缺失会导致FGF23的糖基化不足和随后的蛋白分解，导致HYPE-HYPERSPEATI A综合征或肿瘤钙质沉着。我们利用Galnt3基因缺失(^&lt；-/-&gt；)小鼠，证实了GALNT3在维持FGF23活性从而维持PI动态平衡中的作用，并分析了其在骨和睾丸生物学中的功能。我们发现，尽管成骨细胞分化和破骨细胞活动正常，Galnt3的小鼠的骨体积和骨小梁内含软骨包涵体。GALNT3对精子的产生和成熟也很重要，Galnt3^&lt；-/-&gt；小鼠的外膜细胞凋亡就是证据。

Loss of function mutations in the GALNT3 gene result in under-glycosylation and subsequent proteolysis of FGF23, leading to hype rostosis-hype rphosphatemi a syndrome or tumoral calcinosis. Using Galnt3 null (^<-/->) mice, we corroborated the roles of GALNT3 in the maintenance of active FGF23, thus in Pi homeostasis and we analyzed its functions in bone and testis biology. We found that Galnt3' mice had increased bone volume and a trabecular bone with cartilage inclusions, despite the facts that osteoblast differentiation and osteoclast activity were normal. GALNT3 is also important for sperm production and maturation, as evidenced by the apoptosis seen in the epydimis of the Galnt3^<-/-> mice.