MYBBP1A

Chr 17

MYB binding protein 1a

Also known as: P160, PAP2, Pol5

NCBI Gene: 10514 ENSG00000132382 UniProt: Q9BQG0

The protein encoded by this gene is a nucleolar transcriptional regulator that controls ribosomal RNA biogenesis and acts as a transcriptional corepressor through histone deacetylase activity. Mutations cause autosomal dominant developmental delay with variable intellectual disability and dysmorphic features, typically presenting in early childhood. This gene is extremely intolerant to loss-of-function variants, indicating that haploinsufficiency likely underlies the neurodevelopmental phenotype.

ResearchSummary from RefSeq, UniProt

This gene encodes a nucleolar transcriptional regulator that was first identified by its ability to bind specifically to the Myb proto-oncogene protein. The encoded protein is thought to play a role in many cellular processes including response to nucleolar stress, tumor suppression and synthesis of ribosomal DNA. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

ResearchGenerating clinical summary…

LOEUF 1.21

Clinical Summary— MYBBP1A

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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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