SAP30

Chr 4

Sin3A associated protein 30

NCBI Gene: 8819 ENSG00000164105 UniProt: O75446

The protein is a component of the Sin3-histone deacetylase complex that deacetylates core histone octamers and recruits this complex to specific corepressor complexes for transcriptional repression. Mutations cause autosomal dominant intellectual disability with developmental delay and behavioral abnormalities. The gene shows moderate constraint against loss-of-function variants, suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

Histone acetylation plays a key role in the regulation of eukaryotic gene expression. Histone acetylation and deacetylation are catalyzed by multisubunit complexes. The protein encoded by this gene is a component of the histone deacetylase complex, which includes SIN3, SAP18, HDAC1, HDAC2, RbAp46, RbAp48, and other polypeptides. This complex is active in deacetylating core histone octamers, but inactive in deacetylating nucleosomal histones. A pseudogene of this gene is located on chromosome 3. [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)

—

P/LP submissions

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P/LP missense

0.76

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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