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Immunogen sequence: MAAVGAGGS TAAPGPGAVS AGALEPGTAS AAHRRLKYIS LAVLVVQNAS LILSIRYART LPGDRFFATT AVVMAEVLKG LTCLLLLFAQ KRGNVKHLVL FLHEAVLVQY VDTLKLAVPS LIYTLQNNLQ YVAISNLPAA TFQPSPRCSQ SHSLCLCLRL RALRSPAASR AATTTAAVFP PWRPHHGALS AKVSAGEVRA GSNGGTQGRG TGVEGVGHLQ DPSRHPPGPG SSGFGRWSFL PGH (1-242 aa encoded by BC035747)
This gene encodes a member of the nucleotide-sugar transporter family. The encoded protein is a multi-pass membrane protein. It transports UDP-galactose from the cytosol into Golgi vesicles, where it serves as a glycosyl donor for the generation of glycans. Mutations in this gene cause congenital disorder of glycosylation type IIm (CDG2M). Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.
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Protein Aliases: mUGT1; solute carrier family (UDP-N-acetylglucosamine transporter), member 2; solute carrier family 35 (UDP-galactose transporter) member 2; solute carrier family 35 (UDP-galactose transporter), member 2; solute carrier family 35 (UDP-galactose transporter), member A2; Solute carrier family 35 member A2; solute carrier family 35, member A2; UDP-Gal-Tr; UDP-galactose translocator; UDP-galactose transporter
Gene Aliases: AI327289; CDG2M; CDGX; Had-1; Had1; Sfc8; SLC35A2; UDP-Gal-Tr; UGALT; UGAT; UGT; UGT1; UGT2; UGTL
UniProt ID: (Human) P78381, (Mouse) Q9R0M8
Entrez Gene ID: (Human) 7355, (Mouse) 22232, (Rat) 100158233
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