FAQ

EXTL1 gene

Known as: Exostoses (Multiple)-Like 1 Gene, alpha-N-acetylglucosaminyltransferase II, exostosin-L 
This gene plays a role in carbohydrate metabolism and the biosynthesis of heparin/heparin sulfate.
National Institutes of Health

Topic mentions per year

Topic mentions per year

1980-2015
012319802015

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6 relations
EXT1 geneEXT2 geneEXTL1 protein, humanHeparan Sulfate Biosynthesis
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EXTL1 wt Allele

Related mentions per year

Related mentions per year

1962-2018
1960198020002020
EXTL1 gene
EXT1 gene
glycosylation
EXT2 gene
EXTL1 protein, human
Heparan Sulfate Biosynthesis

Papers overview

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2015
2015
EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome
Sanfilippo syndrome is a rare lysosomal storage disorder caused by an impaired degradation of heparan sulfate (HS). It presents… (More)
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2013
2013
Roles of EXTL2, a member of the EXT family of tumour suppressors, in liver injury and regeneration processes.
The gene products of two members of the EXT (exostosin) gene family, EXT1 and EXT2, function together as a polymerase in the… (More)
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2011
2011
Glycotranscriptome study reveals an enzymatic switch modulating glycosaminoglycan synthesis during B-cell development and activation.
B-cell fate and responses are modulated by soluble mediators and direct cellular interactions. Migration properties also vary… (More)
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Highly Cited
2007
Highly Cited
2007
Contribution of EXT1, EXT2, and EXTL3 to heparan sulfate chain elongation.
The exostosin (EXT) family of genes encodes glycosyltransferases involved in heparan sulfate biosynthesis. Five human members of… (More)
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2006
2006
Evidence of genetic underexpression in chorionic villi samples of euploid fetuses with increased nuchal translucency at 10-11 weeks' gestation.
OBJECTIVE To retrospectively investigate whether the genetic profile from chorionic villous sampling (CVS) found in euploid… (More)
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2001
2001
Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode alpha 1,4- N-acetylglucosaminyltransferases that likely are involved in heparan sulfate/ heparin biosynthesis.
The tumor suppressors EXT1 and EXT2 are associated with hereditary multiple exostoses and encode bifunctional… (More)
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2000
2000
EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis.
Hereditary multiple exostoses (HME) is a genetically heterogeneous disease characterized by the development of bony protuberances… (More)
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1999
1999
Mutation analysis of hereditary multiple exostoses in the Chinese
Hereditary multiple exostoses (EXT; MIM 133700) is an autosomal dominant bone disorder. It is genetically heterogeneous with at… (More)
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1999
1999
Refined physical mapping and genomic structure of the EXTL1 gene.
Recently, the EXTL1 gene, a member of the EXT tumor suppressor gene family, has been mapped to 1p36, a chromosome region which is… (More)
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1997
1997
Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family.
Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by multiple bony outgrowths from the… (More)
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