The SHDRA syndrome-associated gene <i>TMEM260</i> encodes a protein-specific O-mannosyltransferase.

ABSTRACT: Mutations in the TMEM260 gene cause structural heart defects and renal anomalies syndrome, but the function of the encoded protein remains unknown. We previously reported wide occurrence of O-mannose glycans on extracellular immunoglobulin, plexin, transcription factor (IPT) domains found in the hepatocyte growth factor receptor (cMET), macrophage-stimulating protein receptor (RON), and plexin receptors, and further demonstrated that two known protein O-mannosylation systems orchestrated by the POMT1/2 and transmembrane and tetratricopeptide repeat-containing proteins 1-4 gene families were not required for glycosylation of these IPT domains. Here, we report that the TMEM260 gene encodes an ER-located protein O-mannosyltransferase that selectively glycosylates IPT domains. We

SUBMITTER: Larsen ISB 

PROVIDER: S-EPMC10214176 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature