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 gene is highly similar to TBL1X gene in nucleotide sequence and protein sequence, but the TBL1X gene is located on chromosome X and this gene is on chromosome Y. This gene has three alternatively spliced transcript variants encoding the same protein. [provided by RefSeq, Jul 2008].
Bassi, Ramesar, Caciotti, Winship, De Grandi, Riboni, Townes, Beighton, Ballabio, Borsani: "X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeats." in: American journal of human genetics, Vol. 64, Issue 6, pp. 1604-16, (1999) (PubMed).
Aliases for TBL1Y 抗体
transducin beta like 1, Y-linked (TBL1Y) 抗体 TBL1 抗体