機能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.
関連疾患Defects in MARVELD2 are the cause of 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.
配列類似性Contains 1 MARVEL domain.
翻訳後修飾Phosphorylated upon DNA damage, probably by ATM or ATR.
細胞内局在Cell membrane. Cell junction > tight junction. Found at tricellular contacts.