Article

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

2022-05-13

Abstract excerpt

<title>Abstract</title> <p>Mutations in the <italic>TMEM260</italic> gene cause structural heart defects and renal anomalies syndrome (SHDRA), but the function of the encoded protein remains unknown. We report that TMEM260 is an ER-located protein O-mannosyltransferase that selectively glycosylates defined extracellular immunoglobulin, plexin, transcription factor (IPT) domains of the hepatocyte growth factor rec...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 1720f1a2-3c60-568c-ad67-30b5669ea4f0
DOI: 10.21203/rs.3.rs-1615826/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The SHDRA syndrome associated gene TMEM260 encodes a protein-specific O-mannosyltransferaseDOI 10.21203/rs.3.rs-1615826/v1Read

Structure and mechanism of the human TMEM260 O-mannosyltransferaseSemantic proximity Read

Global view of domain-specific O-linked mannose glycosylation in glycoengineered cellsSemantic proximity Read

GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathwaySemantic proximity Read

The o-mannosylation pathway: glycosyltransferases and proteins implicated in congenital muscular dystrophy.Semantic proximity Read

Mammalian O-mannosylation: unsolved questions of structure/function.Semantic proximity Read

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.Semantic proximity Read

Protein O-mannosylation in animal development and physiology: from human disorders to Drosophila phenotypes.Semantic proximity Read

Glycosyltransferase POMGNT1 deficiency affects N-cadherin-mediated cell-cell adhesionSemantic proximity Read

Variant in human POFUT1 reduces enzymatic activity and likely causes a recessive microcephaly, global developmental delay with cardiac and vascular features.Semantic proximity Read

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.Semantic proximity Read

The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation.Semantic proximity Read

<i>Frem2</i> Knockout Mice Exhibit Fraser Syndrome Phenotypes and Neonatal Lethality Due to Bilateral Renal AgenesisSemantic proximity Read