Structural highlights
Disease
TM260_HUMAN Structural heart defects-renal anomalies syndrome. The disease is caused by variants affecting the gene represented in this entry.
Function
TM260_HUMAN O-mannosyl-transferase that transfers mannosyl residues to the hydroxyl group of serine or threonine residues of proteins (PubMed:37186866). Specifically glycosylates the IPT/TIG domain of target proteins, such as MET and MST1R/RON (PubMed:37186866). TMEM260-mediated O-mannosylated residues are composed of single mannose glycans that are not elongated or modified (PubMed:37186866).[1]
References
- ↑ Larsen ISB, Povolo L, Zhou L, Tian W, Mygind KJ, Hintze J, Jiang C, Hartill V, Prescott K, Johnson CA, Mullegama SV, McConkie-Rosell A, McDonald M, Hansen L, Vakhrushev SY, Schjoldager KT, Clausen H, Worzfeld T, Joshi HJ, Halim A. The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase. Proc Natl Acad Sci U S A. 2023 May 23;120(21):e2302584120. PMID:37186866 doi:10.1073/pnas.2302584120
