TBL3

Chr 16

transducin beta like 3

Also known as: SAZD, UTP13

NCBI Gene: 10607 ENSG00000183751 UniProt: Q12788

TBL3 encodes a WD40 repeat-containing protein that is part of the small subunit processome involved in ribosome biogenesis, where it assists in the processing and assembly of precursor ribosomal RNA in the nucleolus. Mutations cause an autosomal recessive neurodevelopmental disorder characterized by intellectual disability, developmental delay, and microcephaly. This gene is not highly constrained against loss-of-function variation, which is consistent with the recessive inheritance pattern observed in affected individuals.

ResearchSummary from RefSeq, 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 has multiple polyadenylation sites. It might have multiple alternatively spliced transcript variants but the variants have not been fully described yet. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.74

LOEUF

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Mechanism

Some data sources returned errors (1)