{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["96(2)"],"submitter":["Peyrard M"],"pubmed_abstract":["Meningioma, a tumor of the meninges covering the central nervous system, shows frequent loss of material from human chromosome 22. Homozygous and heterozygous deletions in meningiomas defined a candidate region of >1 Mbp in 22q12.3-q13.1 and directed us to gene cloning in this segment. We characterized a new member of the N-acetylglucosaminyltransferase gene family, the LARGE gene. It occupies >664 kilobases and is one of the largest human genes. The predicted 756-aa N-acetylglucosaminyltransferase encoded by LARGE displays features that are absent in other glycosyltransferases. The human like-acetylglucosaminyltransferase polypeptide is much longer and contains putative coiled-coil domains. We characterized the mouse LARGE ortholog, which encodes a protein 97.75% identical with the human "],"journal":["Proceedings of the National Academy of Sciences of the United States of America"],"pagination":["598-603"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC15182"],"repository":["biostudies-literature"],"pubmed_title":["The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family."],"pmcid":["PMC15182"],"pubmed_authors":["Kost-Alimova M","Peyrard M","Seroussi E","Fransson I","Dunham I","Han FY","Imreh S","Xie YG","Dumanski JP","Sandberg-Nordqvist AC","Collins J"],"additional_accession":[]},"is_claimable":false,"name":"The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family.","description":"Meningioma, a tumor of the meninges covering the central nervous system, shows frequent loss of material from human chromosome 22. Homozygous and heterozygous deletions in meningiomas defined a candidate region of >1 Mbp in 22q12.3-q13.1 and directed us to gene cloning in this segment. We characterized a new member of the N-acetylglucosaminyltransferase gene family, the LARGE gene. It occupies >664 kilobases and is one of the largest human genes. The predicted 756-aa N-acetylglucosaminyltransferase encoded by LARGE displays features that are absent in other glycosyltransferases. The human like-acetylglucosaminyltransferase polypeptide is much longer and contains putative coiled-coil domains. We characterized the mouse LARGE ortholog, which encodes a protein 97.75% identical with the human ","dates":{"release":"1999-01-01T00:00:00Z","publication":"1999 Jan","modification":"2025-04-04T22:04:39.536Z","creation":"2019-03-26T23:45:18Z"},"accession":"S-EPMC15182","cross_references":{"pubmed":["9892679"],"doi":["10.1073/pnas.96.2.598"]}}