Disease-gene associations mined from literature

Literature associating EOGT and chromosome 22q11.2 microduplication syndrome

EOGT [ENSP00000373206]

EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase; Catalyzes the transfer of a single N-acetylglucosamine from UDP-GlcNAc to a serine or threonine residue in extracellular proteins resulting in their modification with a beta-linked N- acetylglucosamine (O-GlcNAc). Specifically glycosylates the Thr residue located between the fifth and sixth conserved cysteines of folded EGF-like domains; O-linked N-acetylglucosaminyltransferases

Synonyms:  EOGT,  B3KR71,  C3ORF64,  C9J4G5,  C9JQM7 ...

Linkouts:  STRING  Pharos  UniProt