TBL1Y

Chr YYL

transducin beta like 1 Y-linked

Also known as: DFNY2, TBL1

NCBI Gene: 90665 ENSG00000092377 UniProt: Q9BQ87 OMIM: 400033

The protein is an F-box-like protein that recruits the ubiquitin/19S proteasome complex to nuclear receptor-regulated transcription units and plays an essential role in transcription activation by mediating proteasomal degradation of transcription repressor complexes. Mutations cause Y-linked deafness type 2, which follows Y-linked inheritance (passed from father to son). The gene shows low constraint against loss-of-function variants.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

YLLOEUF 1.961 OMIM phenotype

Clinical Summary— TBL1Y

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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