Aliases for FAM65B Gene
External Ids for FAM65B Gene
Previous HGNC Symbols for FAM65B Gene
Previous GeneCards Identifiers for FAM65B Gene
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]
GeneCards Summary for FAM65B Gene
FAM65B (Family With Sequence Similarity 65 Member B) is a Protein Coding gene. Diseases associated with FAM65B include Deafness, Autosomal Recessive 104 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. GO annotations related to this gene include binding. An important paralog of this gene is ENSG00000283467.
UniProtKB/Swiss-Prot for FAM65B Gene
Required for hearing (PubMed:24958875). Involved in skeletal muscle development (PubMed:24687993).
Isoform 2: Plays a role in promoting myogenic cell differentiation, cytoskeletal rearrangement and filopodia formation (PubMed:17150207).