基因名称(Gene Name)
MARVELD2 TRIC
蛋白名称
MARVEL domain-containing protein 2 (Tricellulin)
组成
PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
来源
Monoclonal, Rabbit,IgG
稀释比例
WB 1:1000-1:20000; IF 1:200-1:1000; ELISA 1:5000-1:20000; IP 1:50-1:200;
储存
-15°C to -25°C/1 year(Do not lower than -25°C)
背景
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],
功能
Disease:Defects in MARVELD2 are the cause of non-syndromic sensorineural deafness autosomal recessive type 49 (DFNB49) [MIM:610153]. DFNB49 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.,Function:Plays a role in the formation of the epithelial barriers. The separation of the endolymphatic and perilymphatic spaces of the organ of Corti from one another by epithelial barriers is required for normal hearing.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Contains 1 MARVEL domain.,subcellular location:Found at tricellular contacts.,
