DPPA3

Chr 12

developmental pluripotency associated 3

Also known as: Pgc7, STELLA

NCBI Gene: 359787 ENSG00000187569 UniProt: Q6W0C5 OMIM: 608408

The protein functions in epigenetic chromatin reprogramming during early embryonic development, specifically protecting maternal genome DNA methylation by binding to H3K9me2 histone marks and preventing demethylation in the zygote. Mutations cause developmental and epileptic encephalopathy with microcephaly and corpus callosum hypoplasia, with inheritance following an autosomal recessive pattern. The gene shows moderate tolerance to loss-of-function variants (LOEUF 0.89), consistent with the recessive inheritance pattern observed in affected patients.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein that in mice may function as a maternal factor during the preimplantation stage of development. In mice, this gene may play a role in transcriptional repression, cell division, and maintenance of cell pluripotentiality. In humans, related intronless loci are located on chromosomes 14 and X. [provided by RefSeq, Jul 2008]

OMIM 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)

—

P/LP submissions

—

P/LP missense

0.89

LOEUF

Multiple*

Mechanism· predicted