Entrez gene ID | | 6907 |
Official gene symbol | | TBL1X |
Full name | | transducin (beta)-like 1X-linked |
Aliases | | ,EBI,SMAP55,TBL1, |
Gene summary | | 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] |
Location | | Chromosome: X Locus: Xp22.3 |
Gene position | | 9431335 - 9687780 Map Viewer |
Gene orientation | | plus |
Gene size | | 256446 bp |
Gene sequence |
| |
OMIM ID | | 300196 |
|