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.,
Cell membrane ; Multi-pass membrane protein . Cell junction, tight junction . Located at tricellular contacts. .
Brain,Epithelium,Lung,Trachea,
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