基因注释：MARVELD2
官方信息
官方名称：MARVEL domain containing 2
功能摘要：The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011].
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