Gene Symbol | MARVELD2 |
Entrez Gene ID | 153562 |
Full Name | MARVEL domain containing 2 |
Synonyms | DFNB49,MARVD2,MRVLDC2,Tric |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal recessive 49, 610153 (3) |