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Immunogen sequence: DQAFVTLTT NDAYAKGALV LGSSLKQHRT TRRLVVLATP QVSDSMRKVL ETVFDEVIMV DVLDSGDSAH LTLMKRPELG VTLTKLHCWS LTQYSKCVFM DADTLVLANI DDLFDREELS AAPDPGWPDC FNSGVFVYQP SVETYNQLLH LASEQGSFDG GDQGILNTFF SSWATTDIRK HLPFIYNLSS ISIYSYLPAF KVFGASAKVV HFLGRVKPWN YTYDPKTKSV KSEAHDPNMT HPEFLILWWN IFTTNVLPLL QQFGLVKDTC SYVNVEDVSG AISHLSLGEI PAMAQPFVSS EERKERWEQG QADYMGADSF DNIKRKLDTY LQ (1-331 aa encoded by BC031096)
This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.
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Protein Aliases: glycogenin 1; glycogenin glucosyltransferase; Glycogenin-1; GN-1; GN1
Gene Aliases: AU017667; GSD15; GYG; GYG1
UniProt ID: (Human) P46976, (Mouse) Q9R062, (Rat) O08730
Entrez Gene ID: (Human) 2992, (Mouse) 27357, (Rat) 81675
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