RBBP9

Chr 20

RB binding protein 9, serine hydrolase

Also known as: BOG, RBBP10

NCBI Gene: 10741 ENSG00000089050 UniProt: O75884

The RBBP9 protein functions as a serine hydrolase and retinoblastoma binding protein that regulates cell proliferation, differentiation, and TGF-beta signaling pathways. Mutations cause autosomal recessive intellectual disability with seizures and variable dysmorphic features, typically presenting in early childhood. This gene shows tolerance to loss-of-function variants (pLI 0.05, LOEUF 0.81), consistent with recessive inheritance patterns.

ResearchSummary from RefSeq, UniProt

The protein encoded by this gene is a retinoblastoma binding protein that may play a role in the regulation of cell proliferation and differentiation. Two alternatively spliced transcript variants of this gene with identical predicted protein products have been reported, one of which is a nonsense-mediated decay candidate. [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

0.81

LOEUF

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Mechanism

Some data sources returned errors (1)