ZSCAN32

Chr 16

zinc finger and SCAN domain containing 32

Also known as: HCCS-5, ZNF434

NCBI Gene: 54925 ENSG00000140987 UniProt: Q9NX65

The ZSCAN32 protein functions as a transcriptional regulator that binds to identical proteins and is predicted to regulate RNA polymerase II transcription in the nucleus. Mutations in this gene cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, affecting neurological development in early childhood. The gene shows tolerance to loss-of-function variants, consistent with the recessive inheritance pattern observed in affected patients.

ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.57

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)