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EXTL3 protein, human

Known as: Hereditary Multiple Exostoses Gene Isolog, exostoses (multiple)-like 3 protein, human, EXTL3 
Exostosin-like 3 (919, ~105 kDa) is encoded by the human EXTL3 gene. This protein is involved in protein glycosylation and the unfolded protein… 
National Institutes of Health

Related topics

Related topics

8 relations
Carbohydrate MetabolismEXTL3 geneEnzyme GeneGlycosyltransferase Gene

Broader (1)

N-Acetylglucosaminyltransferases

Papers overview

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Highly Cited
2017
Highly Cited
2017
EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay
We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome… 
Highly Cited
2017
Highly Cited
2017
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
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… 
2014
2014
Heparan Sulfate Containing Unsubstituted Glucosamine Residues
Background: The function and biosynthetic mechanism of GlcNH3+ in heparan sulfate remain unclear. Results: GlcNH3+-containing… 
Highly Cited
2012
Highly Cited
2012
The antimicrobial protein REG3A regulates keratinocyte proliferation and differentiation after skin injury.
Highly Cited
2004
Highly Cited
2004
Axon Sorting in the Optic Tract Requires HSPG Synthesis by ext2 (dackel) and extl3 (boxer)
2004
2004
Glycosyltransferase encoding gene EXTL3 is differentially expressed in the developing and adult mouse cerebral cortex.
2003
2003
α1,4-N-Acetylglucosaminyltransferase encoding gene EXTL3 expression pattern in mouse adult and developing tissues with special attention to the pancreas
EXTL3 encodes α1,4-N-acetylglucosaminyltransferases I and II enzymes, which are involved in chain initiation and elongation of… 
2002
2002
Demonstration of a Novel Gene DEXT3 ofDrosophila melanogaster as the EssentialN-Acetylglucosamine Transferase in the Heparan Sulfate Biosynthesis
Hereditary multiple exostoses gene (EXT) family members encode glycosyltransferases required for heparan sulfate (HS… 
Highly Cited
2001
Highly Cited
2001
Human tumor suppressor EXT gene family members EXTL1 and EXTL3 encode α1,4- 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… 
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