基因注释：PLEKHM1
官方信息
官方名称：pleckstrin homology and RUN domain containing M1
功能摘要：The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009].
作为靶基因的剪接因子
关联疾病
该基因暂无关联疾病记录