Transducin (beta)-like 1X-linked, also known as TBL1X, is a
protein which in humans is encoded by the TBL1Xgene.[5]
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, 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
corepressorSMRT (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. This gene is highly similar to the Y chromosome TBL1Y gene.[5]
Transducin (beta)-like 1X-linked, also known as TBL1X, is a
protein which in humans is encoded by the TBL1Xgene.[5]
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, 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
corepressorSMRT (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. This gene is highly similar to the Y chromosome TBL1Y gene.[5]