UNCP-18, the C. elegans homolog of STXBP3, is required for fertility

Abstract

The C. elegans gene uncp-18 is homologous to human syntaxin-binding protein 2 and syntaxin-binding protein 3. Mutations in the human genes are associated with disease. Mutations in STXBP2/MUNC18B result in hemophagocytic lymphohistiocytosis 5 (HLH5) (Vogel et. al, 2017). Mutations in STXBP2/MUNC18B result in hemophagocytic lymphohistiocytosis 5 (HLH5) (Vogel et. al, 2017). STXBP3/MUNC18C variants cause very early onset inflammatory bowel disease and bilateral sensorineural hearing loss (VEOIBD) (Ouahed et. al, 2021).