Immunogen sequence: PGGVAMQRLH QLVPPQTDVL LHIDVAAAQT GVSRFLQVNS AWRYDKREDV QPGTGMLAYT HILMEAAPGL LALYRDTHRV LASVVGTTGV SLNLTQLPPF NVHLQTKLVL LERL
Highest antigen sequence identity to the following orthologs: Mouse - 82%, Rat - 83%.
This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation.
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Protein Aliases: asparagine-linked glycosylation 12 homolog (S. cerevisiae, alpha-1,6-mannosyltransferase); asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase); asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog; Asparagine-linked glycosylation protein 12 homolog; CDG1G; dol-P-Man dependent alpha-1,6-mannosyltransferase; Dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase; dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase; Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase; dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase; ECM39; hALG12; Mannosyltransferase ALG12 homolog; Membrane protein SB87; PP14673
Gene Aliases: ALG12; CDG1G; ECM39; hALG12; PP14673
UniProt ID: (Human) Q9BV10
Entrez Gene ID: (Human) 79087