Entrez gene ID | | 23275 |
Official gene symbol | | POFUT2 |
Full name | | protein O-fucosyltransferase 2 |
Aliases | | ,C21orf80,FUT13, |
Gene summary | | Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM] |
Location | | Chromosome: 21 Locus: 21q22.3 |
Gene position | | 46707811 - 46683843 Map Viewer |
Gene orientation | | minus |
Gene size | | 23969 bp |
Gene sequence |
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OMIM ID | | 610249 |
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