The B3GALT6 gene encodes Beta-1,3-Galactosyltransferase 6, a member of the glycosyltransferase family that plays a critical role in the biosynthesis of glycosaminoglycans (GAGs) and proteoglycans. Located on chromosome 2q32.2, this enzyme is essential for the synthesis of the tetrasaccharide linker region that connects glycosaminoglycan chains to the core protein in proteoglycans[mizumoto2012][@kurtoglu2014].
<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#f0f0f0; text-align:center;">B3GALT6</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>B3GALT6</td></tr>
<tr><td><strong>Full Name</strong></td><td>Beta-1,3-Galactosyltransferase 6</td></tr>
<tr><td><strong>Chromosomal Location</strong></td><td>2q32.2</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>[55503](https://www.ncbi.nlm.nih.gov/gene/55503)</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000110717</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[Q96MC4](https://www.uniprot.org/uniprotkb/Q96MC4/entry)</td></tr>
<tr><td><strong>Protein Category</strong></td><td>Glycosyltransferase (GT31 family)</td></tr>
<tr><td><strong>OMIM</strong></td><td>[614940](https://www.omim.org/entry/614940)</td></tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>
</div>
The B3GALT6 gene encodes Beta-1,3-Galactosyltransferase 6, a member of the glycosyltransferase family that plays a critical role in the biosynthesis of glycosaminoglycans (GAGs) and proteoglycans. Located on chromosome 2q32.2, this enzyme is essential for the synthesis of the tetrasaccharide linker region that connects glycosaminoglycan chains to the core protein in proteoglycans[mizumoto2012][@kurtoglu2014].
<div class="infobox infobox-gene">
<table>
<tr><th colspan="2" style="background:#f0f0f0; text-align:center;">B3GALT6</th></tr>
<tr><td><strong>Gene Symbol</strong></td><td>B3GALT6</td></tr>
<tr><td><strong>Full Name</strong></td><td>Beta-1,3-Galactosyltransferase 6</td></tr>
<tr><td><strong>Chromosomal Location</strong></td><td>2q32.2</td></tr>
<tr><td><strong>NCBI Gene ID</strong></td><td>[55503](https://www.ncbi.nlm.nih.gov/gene/55503)</td></tr>
<tr><td><strong>Ensembl ID</strong></td><td>ENSG00000110717</td></tr>
<tr><td><strong>UniProt ID</strong></td><td>[Q96MC4](https://www.uniprot.org/uniprotkb/Q96MC4/entry)</td></tr>
<tr><td><strong>Protein Category</strong></td><td>Glycosyltransferase (GT31 family)</td></tr>
<tr><td><strong>OMIM</strong></td><td>[614940](https://www.omim.org/entry/614940)</td></tr>
<tr>
<td class="label">KG Connections</td>
<td><a href="/atlas" style="color:#4fc3f7">1 edges</a></td>
</tr>
</table>
</div>
The B3GALT6 gene spans approximately 8.5 kb and consists of 9 exons. It encodes a type II membrane-bound glycosyltransferase with a short cytoplasmic N-terminus, a transmembrane domain, and a catalytic domain facing the Golgi lumen. The gene is evolutionarily conserved across vertebrates, with orthologs in zebrafish, mice, and humans[byers2012].
B3GALT6 catalyzes the transfer of galactose from UDP-galactose to the growing glycosaminoglycan chain during proteoglycan biosynthesis. Specifically, it functions in the synthesis of the tetrasaccharide linker region (GlcA-β1,3-Gal-β1,3-Gal-β1,4-Xyl) that attaches glycosaminoglycans to the core protein[okajima2007][@guo2015]:
B3GALT6 shows specificity for:
B3GALT6 is widely expressed in connective tissues throughout the body:
Proteoglycans are critical components of the extracellular matrix that provide structural support, regulate growth factor signaling, and maintain tissue hydration[martens2009]:
Recessive mutations in B3GALT6 cause a novel spectrum of connective tissue disorders characterized by[byers2012][@kurtoglu2014]:
While primarily a connective tissue disorder, B3GALT6-related conditions may present with:
Although not directly linked to classic neurodegenerative diseases, glycosyltransferases like B3GALT6 are increasingly recognized in neurodegenerative processes[esko2009][@morvan2019]:
Understanding glycosyltransferase function may lead to:
Interactive diagram showing B3GALT6's key relationships in the SciDEX knowledge graph (6 connections shown).
berenson2010, Heparan sulfate in tau pathology and neurodegenerative diseases (2010)
byers2012, Mutations in B3GALT6 cause a spectrum of connective tissue disorders (2012)
cathey2010, Phenotypic spectrum of B3GALT6-related disorders (2010)
cunningham2016, Glycosyltransferase mutations in skeletal dysplasia (2016)
esko2009, Proteoglycans and glycosaminoglycans in neurodegeneration (2009)
faiyaz2014, A founder mutation in B3GALT6 causes a novel recessive connective tissue disorder (2014)
guo2015, B3GALT6 regulates extracellular matrix assembly and biomechanical properties (2015)
herguner2015, B3GALT6 mutations in patients with Ehlers-Danlos syndrome (2015)
jourdain2018, Proteoglycans at the synapse: from structure to function (2018)
karamanos2019, Glycosaminoglycans in health and disease: The building blocks of life (2019)
kurtoglu2014, B3GALT6 syndrome: a new genetic disorder characterized by connective tissue abnormalities and severe infections (2014)
malfait2015, The 2017 international classification of connective tissue disorders (2015)
martens2009, Proteoglycans in the central nervous system: role in development and disease (2009)
mizumoto2012, Functional analysis of B3GALT6 and B4GALT7 in glycosyltransferase (2012)
morvan2019, Glycosylation in neurodegenerative diseases: An emerging field (2019)
okajima2007, Molecular functions of glycosyltransferases in proteoglycan synthesis (2007)
peyrin2007, The role of proteoglycans in tau aggregation and neurodegeneration (2007)
uyama2013, Disorders of glycosylation in neurological diseases (2013)
yamada2014, Functions of glycosyltransferases in brain development and function (2014)
yamaguchi2000, Glycosaminoglycans and their modifying enzymes in Alzheimer's disease (2000)