Gene Symbol | RIPOR2 |
Entrez Gene ID | 9750 |
Full Name | RHO family interacting cell polarization regulator 2 |
Synonyms | C6orf32,DFNB104,DIFF40,DIFF48,FAM65B,MYONAP,PL48 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes an atypical inhibitor of the small G protein RhoA. Inhibition of RhoA activity by the encoded protein mediates myoblast fusion and polarization of T cells and neutrophils. The encoded protein is a component of hair cell stereocilia that is essential for hearing. A splice site mutation in this gene results in hearing loss in human patients. [provided by RefSeq, Sep 2016]. |
Disorder MIM: | |
Disorder Html: | ?Deafness, autosomal recessive 104, 616515 (3) |