EOGT

This gene encodes an enzyme that acts in the lumen of the endoplasmic reticulum to catalyze the transfer of N-acetylglucosamine to serine or threonine residues of extracellular-targeted proteins. This enzyme modifies proteins containing eukaryotic growth factor (EGF)-like domains, including the Notch receptor, thereby regulating developmental signalling. Mutations in this gene have been observed in individuals with Adams-Oliver syndrome 4. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]

Description

EGF domain specific O-linked N-acetylglucosamine transferase

Protein family

Disease related genes, Enzymes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Protein evidence (Peptideatlas)

Chromosome

3:p14.1 (68975217 - 69013684)

Ensembl ID

ENSG00000163378  (ver. 99.38)

Orthologs

Mouse Eogt: ENSMUSG00000035245

UniProt

Q5NDL2

neXtProt

NX_Q5NDL2

Human splice variants
Mouse splice variants