Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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… Expand
National Institutes of Health

Related topics

Related topics

8 relations
Carbohydrate MetabolismEXTL3 geneEnzyme GeneGlycosyltransferase Gene
Expand

Broader (1)

N-Acetylglucosaminyltransferases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2018
Highly Cited
2018
Specific glycosaminoglycan chain length and sulfation patterns are required for cell uptake of tau versus α-synuclein and β-amyloid aggregates
Transcellular propagation of protein aggregate “seeds” has been proposed to mediate the progression of neurodegenerative diseases… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
2017
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… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
2017
2017
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
EXTL3 regulates the biosynthesis of heparan sulfate (HS), important for both skeletal development and hematopoiesis, through the… Expand
  • table 1
  • figure 1
  • figure 2
  • table 2
  • table 3
2014
2014
Heparan Sulfate Containing Unsubstituted Glucosamine Residues
Background: The function and biosynthetic mechanism of GlcNH3+ in heparan sulfate remain unclear. Results: GlcNH3+-containing… Expand
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Highly Cited
2012
Highly Cited
2012
The antimicrobial protein REG3A regulates keratinocyte proliferation and differentiation after skin injury.
Epithelial keratinocyte proliferation is an essential element of wound repair, and abnormal epithelial proliferation is an… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
2010
2010
Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses
Neurological pathology is characteristic of the mucopolysaccharidoses (MPSs) that store heparan sulphate (HS) glycosaminoglycan… Expand
  • table 1
  • figure 1
  • figure 3
  • figure 2
  • figure 4
2008
2008
EXTL3 promoter methylation down‐regulates EXTL3 and heparan sulphate expression in mucinous colorectal cancers
Exostoses like‐3 (EXTL3) is a putative tumour suppressor gene but its involvement in colorectal cancer (CRC) is unclear. We have… Expand
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… Expand
  • figure 1
  • figure 2
  • table 1
  • figure 3
  • figure 4
Highly Cited
2004
Highly Cited
2004
Axon Sorting in the Optic Tract Requires HSPG Synthesis by ext2 (dackel) and extl3 (boxer)
Retinal ganglion cell (RGC) axons are topographically ordered in the optic tract according to their retinal origin. In zebrafish… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • table 1
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… Expand
  • figure 1
  • figure 2
  • figure 3
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE