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The official name of this gene is “EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase.”
EOGT is the gene's official symbol. The EOGT gene is also known by other names, listed below.
The EOGT gene provides instructions for making a protein that modifies certain other proteins by transferring a molecule called N-acetylglucosamine to them. This change, called an O-GlcNAc modification, can affect protein stability and regulate several cellular processes, such as signaling in cells and the first step in the production of proteins from genes (transcription). Little is known about the proteins altered by the EOGT protein or what effect the O-GlcNAc modification has on them. Studies suggest that Notch proteins may be modified by EOGT. Notch proteins stimulate signaling pathways important during the development of several tissues throughout the body, including the bones, heart, liver, muscles, and blood cells, among others.
At least three mutations in the EOGT gene have been found in individuals with Adams-Oliver syndrome. This condition is characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet. The most common EOGT gene mutation involved in this condition, which is found in the Arab population, leads to an abnormally short protein. The other mutations change single protein building blocks (amino acids) in the EOGT protein. It is unknown what effect the altered EOGT proteins have on cells or how the changes lead to the features of Adams-Oliver syndrome.
Cytogenetic Location: 3p14.1
Molecular Location on chromosome 3: base pairs 68,975,211 to 69,013,960
The EOGT gene is located on the short (p) arm of chromosome 3 at position 14.1.
More precisely, the EOGT gene is located from base pair 68,975,211 to base pair 69,013,960 on chromosome 3.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about EOGT helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
acids ; domain ; extracellular ; gene ; molecule ; mutation ; population ; protein ; syndrome ; transcription ; transferase
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.