MARVELD2
MIM.610572 5q13.1
MARVELD2, or tricellulin (TRIC), is an integral membrane protein concentrated at the vertically oriented TJ strands of tricellular contacts.
Pathology
germline mutations of MARVELD2 in autosomal recessive deafness locus 49 (DFNB49) (MIM.610153)
The inner ear has fluid-filled compartments of different ionic compositions, including the endolymphatic and perilymphatic spaces of the organ of Corti; the separation from one another by epithelial barriers is required for normal hearing.
TRIC encodes tricellulin, a recently discovered tight-junction (TJ) protein that contributes to the structure and function of tricellular contacts of neighboring cells in many epithelial tissues.
Tight junctions (TJ) prevent leakage of solutes through the paracellular pathway of epithelial cells.
References
Ikenouchi, J.; Furuse, M.; Furuse, K.; Sasaki, H.; Tsukita, S.; Tsukita, S. : Tricellulin constitutes a novel barrier at tricellular contacts of epithelial cells. J. Cell Biol. 171: 939-945, 2005. PubMed ID : #16365161#
Riazuddin, S.; Ahmed, Z. M.; Fanning, A. S.; Lagziel, A.; Kitajiri, S.; Ramzan, K.; Khan, S. N.; Chattaraj, P.; Friedman, P. L.; Anderson, J. M.; Belyantseva, I. A.; Forge, A.; Riazuddin, S.; Friedman, T. B. : Tricellulin is a tight-junction protein necessary for hearing. Am. J. Hum. Genet. 79: 1040-1051, 2006. PubMed ID : #17186462#