Also known as C14orf4, EAP1, interferon regulatory factor 2 binding protein like, enhanced at puberty protein 1, NEDAMSS
Interferon regulatory factor 2 binding protein like is a protein that in humans is encoded by the IRF2BPL gene. Mutations are associated with neurological problems. More specifically, mutations of the gene cause the NEDAMSS syndrome, whose abbreviation stands for NEurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures, first described in 2018.
This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012].
Interferon regulatory factor 2 binding protein like is a protein that in humans is encoded by the IRF2BPL gene. Mutations are associated with neurological problems. More specifically, mutations of the gene cause the NEDAMSS syndrome, whose abbreviation stands for NEurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures, first described in 2018.
Research into IRF2BPL-Related Disorder (NEDAMSS) is ongoing, with multiple academic and clinical groups investigating the gene’s role in neurodevelopment and potential therapeutic approaches. Nonprofit organizations, such as Tough Genes, are working to support these efforts to translate research into a cure.
Cellular component
via MyGene.info
via Wikidata · CC0
Discovered by embedding cosine similarity (sentence-transformers MiniLM, 384-dim).