RBBP6

Chr 16

RB binding protein 6, ubiquitin ligase

Also known as: MY038, P2P-R, PACT, RBQ-1, SNAMA

NCBI Gene: 5930 ENSG00000122257 UniProt: Q7Z6E9

The RBBP6 protein functions as an E3 ubiquitin ligase that regulates key cellular processes including p53 stability, DNA replication, and chromosomal fragile site stability through targeted protein degradation. Mutations cause autosomal dominant developmental delay with variable intellectual disability and behavioral abnormalities. This gene is extremely intolerant to loss-of-function variants, indicating that proper dosage is critical for normal development.

ResearchSummary from RefSeq, UniProt

The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.08

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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