MARVELD2
MARVELD2 (MARVEL Domain Containing 2) is a protein that in humans is encoded by the MARVELD2 gene. This protein is also known as Tricellulin, a name derived from its role in the formation of tricellular tight junctions in epithelial cells.
Function[edit | edit source]
The MARVELD2 gene encodes a member of the MARVEL (Membrane-Associating Vesicle protein with a Role in intracellular protein LEVel regulation) domain protein family. Members of this family are involved in various processes including lipid raft organization, tight junction assembly, and cell polarity regulation. The encoded protein is a tight junction protein that localizes at tricellular contacts and is involved in the organization of epithelial cell junctions.
Clinical significance[edit | edit source]
Mutations in this gene are associated with deafness, autosomal recessive 49 (DFNB49). 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.
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
