Protein O-mannosyl-transferase TMEM260 (TMEM260)

TMEM260 encodes a membrane-bound protein O-mannosyltransferase localized to the endoplasmic reticulum. It selectively catalyzes the addition of mannose to serine or threonine residues on specific extracellular IPT domains of certain receptor proteins, including cMET, RON, and members of the plexin family. This modification is crucial for receptor maturation, trafficking, and epithelial tissue morphogenesis. Pathogenic variants in TMEM260 cause structural heart defects and renal anomalies syndrome (SHDRA), a severe congenital disorder often presenting with cardiac malformations, renal anomalies, and neurodevelopmental deficits[1][2][3][4]. TMEM260's function represents a third, distinct type of O-mannosylation pathway in higher eukaryotes, separate from the POMT and TMTC families of protein mannosyltransferases[1].

Other names

Transmembrane protein 260TMEM260Protein O-mannosyl-transferase TMEM260

Not applicable, as there are no approved or known drugs targeting this enzyme.