靶标:
MARVELD2
产品别名:
DFNB49; MARVD2; MRVLDC2; Tric; MARVELD2; MARVEL domain containing 2; MARVEL domain containing 2; MARVEL domain-containing protein 2; MARVEL (membrane-associating) domain containing 2; tricellulin; MARVEL蛋白家族D2;
背景信息:
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],