Gene: EOGT

Alternate names for this Gene: AER61|AOS4|C3orf64|EOGT1

Gene Summary: 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p14.1

Description of this Gene: EGF domain specific O-linked N-acetylglucosamine transferase

Type of Gene: protein-coding

rs1247059195 in EOGT gene and ADAMS-OLIVER SYNDROME 4 PMID 29924900 2018 Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort.

PMID 23522784 2013 Mutations in EOGT confirm the genetic heterogeneity of autosomal-recessive Adams-Oliver syndrome.

PMID 23860037 2014 Autosomal recessive Adams-Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase.

rs139497601 in EOGT gene and Finding of Mean Corpuscular Hemoglobin PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.