Articles with "ipt domains" as a keyword



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The SHDRA syndrome-associated gene TMEM260 encodes a protein-specific O-mannosyltransferase.

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Published in 2023 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2302584120

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… read more here.

Keywords: ipt domains; protein specific; mannosyltransferase; gene ... See more keywords