ARID4B

Chr 1

AT-rich interaction domain 4B

Also known as: BCAA, BRCAA1, RBBP1L1, RBP1L1, SAP180

NCBI Gene: 51742 ENSG00000054267 UniProt: Q4LE39 OMIM: 609696

The protein functions as a transcriptional repressor and is a subunit of the histone deacetylase-dependent SIN3A transcriptional corepressor complex, regulating gene expression involved in cellular proliferation, differentiation, and apoptosis. Mutations cause autosomal dominant intellectual disability with developmental delay, and the gene is highly intolerant to loss-of-function variants. The condition affects neurodevelopment and may include additional features given the protein's broad role in transcriptional regulation.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein with sequence similarity to retinoblastoma-binding protein-1. The encoded protein is a subunit of the histone deacetylase-dependant SIN3A transcriptional corepressor complex, which functions in diverse cellular processes including proliferation, differentiation, apoptosis, oncogenesis, and cell fate determination. The gene product is recognized by IgG antibody isolated from a breast cancer patient and appears to be a molecular marker associated with a broad range of human malignancies. Alternate transcriptional splice variants encoding different isoforms have been characterized. [provided by RefSeq, Jul 2008]

OMIM 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

0.19

LOEUF· LoF intol.

LOF

Mechanism· predicted