Gene Symbol: RXYLT1
Description: ribitol xylosyltransferase 1
Alias: HP10481, MDDGA10, TMEM5, ribitol-5-phosphate xylosyltransferase 1, UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase, transmembrane protein 5, type II membrane protein
Zaum A, Kolokotronis K, Kress W, Goebel H, Rost S, Seeger J. A new case expanding the mutation and phenotype spectrum of TMEM5-related alpha-dystroglycanopathy. Neuromuscul Disord. 2018;28:671-674 pubmed publisher
..b>TMEM5 is one of many glycosyltransferases recently described to be associated with alpha-dystroglycanopathies...
Jaeken J, Peanne R. What is new in CDG?. J Inherit Metab Dis. 2017;40:569-586 pubmed publisher
..PIGN-CDG), the elucidation of putative glycosyltransferase disorders as O-mannosylglycan synthesis disorders (TMEM5-CDG, ISPD-CDG, FKTN-CDG, FKRP-CDG), a novel CDG mechanism, advances in diagnosis, pathogenesis, treatment and ..
Astrea G, Pezzini I, Picillo E, Pasquariello R, Moro F, Ergoli M, et al
. TMEM5-associated dystroglycanopathy presenting with CMD and mild limb-girdle muscle involvement. Neuromuscul Disord. 2016;26:459-61 pubmed publisher
..Recently, mutations in TMEM5 have been described in severe dystroglycanopathies...
Yagi H, Kuo C, Obayashi T, Ninagawa S, Khoo K, Kato K. Direct Mapping of Additional Modifications on Phosphorylated O-glycans of Î±-Dystroglycan by Mass Spectrometry Analysis in Conjunction with Knocking Out of Causative Genes for Dystroglycanopathy. Mol Cell Proteomics. 2016;15:3424-3434 pubmed
..However, the in vivo functional roles remain equivocal for enzymes such as ISPD, FKTN, FKRP, and TMEM5 that are supposed to be involved in post-phosphoryl modifications linking the GalNAc-Î²3-GlcNAc-Î²4-Man-6-..
Yokoyama Kobayashi M, Yamaguchi T, Sekine S, Kato S. Selection of cDNAs encoding putative type II membrane proteins on the cell surface from a human full-length cDNA bank. Gene. 1999;228:161-7 pubmed
..This fibrin sheet method was successfully applied to select five novel cDNA clones encoding putative type II membrane proteins from a human full-length cDNA bank. ..
Vuillaumier Barrot S, Bouchet Seraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, et al
. Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet. 2012;91:1135-43 pubmed publisher
..This allowed us to identify two additional genes: TMEM5 and ISPD...
Jae L, Raaben M, Riemersma M, van Beusekom E, Blomen V, Velds A, et al
. Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry. Science. 2013;340:479-83 pubmed publisher
..Our findings accentuate the complexity of this posttranslational feature and point out genes defective in dystroglycanopathies...
Praissman J, Willer T, Sheikh M, Toi A, Chitayat D, Lin Y, et al
. The functional O-mannose glycan on ?-dystroglycan contains a phospho-ribitol primed for matriglycan addition. elife. 2016;5: pubmed publisher
..b>TMEM5 is a UDP-xylosyl transferase that elaborates the structure...
Manya H, Yamaguchi Y, Kanagawa M, Kobayashi K, Tajiri M, Akasaka Manya K, et al
. The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol ?1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan. J Biol Chem. 2016;291:24618-24627 pubmed
..However, the linkage of the first Xyl residue to ribitol 5-phosphate (Rbo5P) is not clear. TMEM5 is a gene product responsible for ?-dystroglycanopathy and was reported as a potential enzyme involved in this ..