MARVEL Domain Containing 2 (MARVELD2) Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Sep 2011]

MARVELD2: 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. Defects in MARVELD2 are the cause of deafness autosomal recessive type 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. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Membrane protein, multi-pass

Chromosomal Location of Human Ortholog: 5q13.2

Cellular Component: tight junction; basolateral plasma membrane; cytoplasm; apical plasma membrane; integral to membrane; cytoplasmic vesicle

Molecular Function: protein binding

Biological Process: intercellular junction assembly and maintenance; sensory perception of sound

Disease: Deafness, Autosomal Recessive 49