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Western Blot

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

TBL1X

Gene Alias

EBI, SMAP55, TBL1

Gene Description

transducin (beta)-like 1X-linked

Omim ID

Gene Ontology

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

Other Designations

F-box-like/WD repeat-containing protein TBL1X|OTTHUMP00000022880|transducin beta-like 1X