MSANTD2

Chr 11

Myb/SANT DNA binding domain containing 2

Also known as: C11orf61

NCBI Gene: 79684 ENSG00000120458 UniProt: Q6P1R3

The protein functions as a Myb/SANT DNA-binding domain-containing protein involved in transcriptional regulation. Mutations cause autosomal recessive intellectual disability with seizures and microcephaly, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants, suggesting that complete loss of protein function is likely pathogenic.

Research

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

0.37

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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