ZBTB44

Chr 11

zinc finger and BTB domain containing 44

Also known as: BTBD15, HSPC063, ZNF851

NCBI Gene: 29068 ENSG00000196323 UniProt: Q8NCP5

This protein is predicted to function as a transcriptional regulator through DNA binding and zinc ion binding activities in the nucleus. The gene is highly constrained against loss-of-function mutations (pLI 1.0, LOEUF 0.14), suggesting that heterozygous mutations would likely cause neurodevelopmental disorders with autosomal dominant inheritance. However, the specific phenotypes associated with ZBTB44 mutations have not been well-characterized in the literature.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA binding activity and zinc ion binding activity. Predicted to be involved in DNA-templated transcription. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

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

0.14

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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