{"symbol":"TBL1X","synonyms":["EBI","SMAP55"],"name":"transducin (beta)-like 1X-linked","description":"The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008]","ncbiEntrezGeneId":6907,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/6907","proteins":[{"symbol":"TBL1X_HUMAN","href":"/api/1.0/protein/TBL1X_HUMAN"}],"hgncRootFamilies":[{"name":"WD repeat domain containing (WDR)","href":"/api/1.0/gene_family/WD+repeat+domain+containing+%28WDR%29"}]}