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Updated: Feb 28, 2026
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Glycan Node Analysis: A Bottom-up Approach to Glycomics
Published on: May 22, 2016
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Glycan-related genes and genetic disorders
Akira Togayachi1, Kiyohiko Angata2, Shoko Nishihara3
1Glycans and Life Science Integration Center (GaLSIC), Soka University, Hachioji, Tokyo, Japan. togayachi@soka.ac.jp.
Journal of Human Genetics
|February 25, 2026
Summary
Glycosylation is vital for cell function, with over 400 human genes controlling it. Mutations in these "glycogenes" cause congenital disorders of glycosylation (CDGs), highlighting the need for integrated research.
Area of Science:
- Biochemistry
- Genetics
- Glycomics
Background:
- Glycosylation, a crucial post-translational modification, impacts protein structure and diverse physiological functions.
- Over 400 human genes, termed "glycogenes," orchestrate the synthesis of N-linked, O-linked, and proteoglycan glycans.
- Altered glycosylation is implicated in numerous genetic disorders, collectively known as congenital disorders of glycosylation (CDGs).
Purpose of the Study:
- To review the types and functions of glycans.
- To present the glycogenes involved in glycan biosynthesis pathways.
- To discuss genetic disorders arising from glycogene mutations and explore glycogenomic approaches.
Main Methods:
- Literature review of glycosylation, glycogenes, and CDGs.
- Presentation of glycan types, biological functions, and synthetic pathways.
- Discussion of glycogenomic approaches for identifying CDG-causing gene mutations.
Main Results:
- Glycans play critical roles in cell-cell communication, immune response, and tissue development.
- Mutations in glycogenes lead to a spectrum of CDGs, often presenting diagnostic challenges.
- Identifying specific gene-glycan structure-phenotype correlations remains complex.
Conclusions:
- Understanding CDGs requires a multidisciplinary approach integrating genetics, biochemistry, glycomics, and clinical research.
- Newly identified CDGs are continually emerging, underscoring the complexity of glycosylation pathways.
- Glycogenomic strategies are essential for diagnosing and characterizing rare diseases linked to glycosylation defects.
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