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

Uniprot Id

Q8N4S9

Target Species

Human

Target Name

MARVELD2

Target Full Name

MARVEL domain-containing protein 2

Target Function

Plays a role in the formation of tricellular tight junctions and of epithelial barriers. Required for normal hearing via its role in the separation of the endolymphatic and perilymphatic spaces of the organ of Corti in the inner ear, and for normal survival of hair cells in the organ of Corti.

Target Involvement

Deafness, autosomal recessive, 49 (DFNB49)

Target Subcellular Location

Cell membrane; Multi-pass membrane protein. Cell junction, tight junction.

Target Synonyms

MARVELD2; TRIC; MARVEL domain-containing protein 2; Tricellulin

Target Background

The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene.