XB-FEAT-982284

From Xenbase
Jump to: navigation, search

tbl1x

This is the community wiki page for the gene tbl1x please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase.

nomenclature changes

10/17/17

Human name has changed for Entrez Gene: 6907. From transducin beta like 1X-linked to transducin beta like 1 X-linked

summary from NCBI

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]