PHF24

Chr 9

PHD finger protein 24

Also known as: GINIP

NCBI Gene: 23349 ENSG00000122733 UniProt: Q9UPV7

PHF24 encodes a transcriptional corepressor that negatively regulates gene transcription and is predicted to be involved in GABAergic synaptic transmission and pain perception pathways. The gene is highly constrained against loss-of-function variants (LOEUF 0.56), but no definitive human disease associations have been established for PHF24 mutations. Additional clinical and molecular studies are needed to determine the inheritance pattern and phenotypic spectrum associated with this gene.

ResearchSummary from RefSeq

Predicted to enable transcription corepressor activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to act upstream of or within several processes, including detection of mechanical stimulus involved in sensory perception of pain; gamma-aminobutyric acid signaling pathway; and regulation of GABAergic synaptic transmission. Predicted to be active in glutamatergic synapse; nucleus; and synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 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

0.56

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

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