THAP4

Chr 2

THAP domain containing 4

Also known as: CGI-36, Nb(III), PP238

NCBI Gene: 51078 ENSG00000176946 UniProt: Q8WY91

The THAP4 protein is a heme-binding protein that acts as a peroxynitrite isomerase, converting peroxynitrite to nitrate and protecting against reactive nitrogen and oxygen species toxicity. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset typically in infancy or early childhood. The gene shows moderate constraint to loss-of-function variants (LOEUF 0.5), suggesting some intolerance to complete protein loss.

ResearchSummary from RefSeq, UniProt

Enables several functions, including heme binding activity; nitric oxide binding activity; and peroxynitrite isomerase activity. Involved in nitrate metabolic process and tyrosine metabolic process. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

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

0.50

LOEUF

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Mechanism

Some data sources returned errors (1)

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