Transducin (beta)-like 1X-linked, also known as TBL1X, is a
protein which in humans is encoded by the ''TBL1X''
gene.
Function
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
Signal transduction is the process by which a chemical or physical signal is transmitted through a cell as a series of molecular events, most commonly protein phosphorylation catalyzed by protein kinases, which ultimately results in a cellula ...
, 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
Histone deacetylases (, HDAC) are a class of enzymes that remove acetyl groups (O=C-CH3) from an ε-N-acetyl lysine amino acid on a histone, allowing the histones to wrap the DNA more tightly. This is important because DNA is wrapped around his ...
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
Ocular albinism is a form of albinism which, in contrast to oculocutaneous albinism, presents primarily in the eyes. There are multiple forms of ocular albinism, which are clinically similar.James, William; Berger, Timothy; Elston, Dirk (2005). ' ...
with late-onset
sensorineural deafness phenotype. This gene is highly similar to the Y chromosome TBL1Y gene.
Interactions
TBL1X has been shown to
interact with:
*
GPS2,
[ and
* ]HDAC3
Histone deacetylase 3 is an enzyme encoded by the ''HDAC3'' gene in both humans and mice.
Function
Histones are highly alkaline proteins that package and order DNA into structural units called nucleosomes, which comprise the major protein comp ...
,[
* NCOA1,]
References
Further reading
*
*
*
*
*
*
*
*
*
*
{{gene-X-stub