TADA1

Chr 1

transcriptional adaptor 1

Also known as: ADA1, HFI1, STAF42, TADA1L, hADA1

NCBI Gene: 117143 ENSG00000152382 UniProt: Q96BN2 OMIM: 612763

The TADA1L protein is a subunit of the STAGA chromatin-modifying complex that regulates gene transcription through histone acetylation. Mutations cause autosomal recessive intellectual disability with developmental delay and distinctive facial features. This gene is highly constrained against loss-of-function variants, suggesting that complete loss of protein function is likely pathogenic.

OMIM ResearchSummary from RefSeq, UniProt

TADA1L is a protein subunit of the human STAGA complex (SPT3; (MIM 602947)/TAF9 (MIM 600822)/GCN5 (MIM 602301) acetyltransferase complex), which is a chromatin-modifying multiprotein complex (Martinez et al., 2001 [PubMed 11564863]).[supplied by OMIM, Apr 2009]

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

0.60

LOEUF

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Mechanism