MARVELD2

MARVELD2 (MARVEL domain-containing protein 2), also known as TRIC or C12orf3, is a transmembrane protein critical for maintaining epithelial barrier integrity and cell-cell adhesion. It localizes to tight junctions, where it interacts with structural proteins like claudins and occludin to regulate paracellular permeability. Functionally linked to the planar cell polarity (PCP) pathway, MARVELD2 modulates cytoskeletal dynamics and directional cell movement during tissue morphogenesis. Mutations in MARVELD2 are associated with autosomal recessive non-syndromic hearing loss (DFNB49), attributed to defective cochlear epithelial barrier formation and hair cell organization. While no targeted therapies currently exist, research explores gene-editing approaches to restore its function. Its role in epithelial cancers and inflammatory bowel diseases is under investigation, highlighting broader implications in barrier-related pathologies.

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Recombinant Human MARVEL domain-containing protein 2 (MARVELD2), partial