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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: solute carrier family 35 (UDP-galactose transporter), member 2; solute carrier family 35 (UDP-galactose transporter), member A2; Solute carrier family 35 member A2; UDP-Gal-Tr; UDP-galactose translocator; UDP-galactose transporter
基因别名: CDG2M; CDGX; SLC35A2; UDP-Gal-Tr; UGALT; UGAT; UGT; UGT1; UGT2; UGTL
UniProt ID: (Human) P78381
Entrez Gene ID: (Human) 7355