菜单 基因医生

该基因编码肌管蛋白双特异性蛋白磷酸酶基因家族的一个成员。所编码的蛋白质在结构上与肌管蛋白相似,但还包含一个FYVE结构域和一个N末端的PH-GRAM结构域该蛋白能与另一种肌管蛋白相关蛋白自缔合并形成异聚体。该蛋白通过ph-gram结构域与磷脂酰肌醇脂类结合,在体外能水解磷脂酰肌醇(3)-磷酸酯和磷脂酰肌醇(3,5)-磷酸酯。已观察到编码蛋白在细胞内有一个核周分布,可能是膜结合的,但也发现它在细胞质中是游离的。已发现该基因编码不同亚型的多个转录变体。[由RefSeq提供,2008年7月]
This gene encodes a member of the myotubularin dual specificity protein phosphatase gene family. The encoded protein is structurally similar to myotubularin but in addition contains a FYVE domain and an N-terminal PH-GRAM domain. The protein can self-associate and also form heteromers with another myotubularin related protein. The protein binds to phosphoinositide lipids through the PH-GRAM domain, and can hydrolyze phosphatidylinositol(3)-phosphate and phosphatidylinositol(3,5)-biphosphate in vitro. The encoded protein has been observed to have a perinuclear, possibly membrane-bound, distribution in cells, but it has also been found free in the cytoplasm. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

基因名:MTMR3
别名:ZFYVE10,FYVE-DSP1
基因ID:8897
Chromosome:
(GRCh37)
22 Start: 30279149 End: 30426857 Strand: 
信号通路:  
MTMR3 基因突变与药物