DISEASES

Disease-gene associations mined from literature

Literature associating EOGT and nemaline myopathy 10

EOGT [ENSP00000373206]

EGF domain-specific O-linked N-acetylglucosamine 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. ; Belongs to the glycosyltransferase 61 family.

Synonyms:  EOGT,  C9J4G5,  C9JQM7,  F5H225,  Q5NDL2 ...

Linkouts:  STRING  Pharos  UniProt